ClinVar for Gene (Select 1811) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366689	NM_000111.3(SLC26A3):c.391C>T (p.Pro131Ser)	SLC26A3 (P131S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341457	NM_000111.3(SLC26A3):c.874A>G (p.Ile292Val)	SLC26A3 (I292V)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 3319310	NM_000111.3(SLC26A3):c.2263G>A (p.Val755Ile)	SLC26A3 (V755I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319309	NM_000111.3(SLC26A3):c.1604T>C (p.Val535Ala)	SLC26A3 (V535A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319308	NM_000111.3(SLC26A3):c.76A>G (p.Lys26Glu)	SLC26A3 (K26E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319306	NM_000111.3(SLC26A3):c.431C>A (p.Ala144Glu)	SLC26A3 (A144E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319305	NM_000111.3(SLC26A3):c.1415G>T (p.Trp472Leu)	SLC26A3 (W472L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319304	NM_000111.3(SLC26A3):c.1521A>T (p.Lys507Asn)	SLC26A3 (K507N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319303	NM_000111.3(SLC26A3):c.2071A>T (p.Ile691Phe)	SLC26A3 (I691F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319302	NM_000111.3(SLC26A3):c.1721C>T (p.Ala574Val)	SLC26A3 (A574V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255580	NM_000111.3(SLC26A3):c.1262del (p.Val421fs)	SLC26A3 (V421fs)	Deletion (frameshift variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 3245842	NC_000007.13:g.(?_107432255)_(107434954_?)del	SLC26A3	Deletion	not provided	GPathogenic
Select item 3245841	NC_000007.13:g.(?_107408191)_(107408373_?)del	SLC26A3	Deletion	not provided	GPathogenic
Select item 3245840	NC_000007.13:g.(?_102937907)_(108155935_?)del	ATXN7L1, BCAP29 +29 more	Deletion	not provided	GPathogenic
Select item 3242407	NM_000111.3(SLC26A3):c.202C>T (p.Arg68Trp)	SLC26A3 (R68W)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 3238860	NM_000111.3(SLC26A3):c.670del (p.Ser224fs)	SLC26A3 (S224fs)	Deletion (frameshift variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 3163855	NM_000111.3(SLC26A3):c.841C>T (p.Arg281Cys)	SLC26A3 (R281C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163853	NM_000111.3(SLC26A3):c.298A>G (p.Ile100Val)	SLC26A3 (I100V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163852	NM_000111.3(SLC26A3):c.2125T>A (p.Phe709Ile)	SLC26A3 (F709I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163851	NM_000111.3(SLC26A3):c.1681G>T (p.Gly561Cys)	SLC26A3 (G561C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3029972	NM_000111.3(SLC26A3):c.1677+1G>A	SLC26A3	Single nucleotide variant (splice donor variant)	SLC26A3-related disorder	GLikely pathogenic
Select item 3020810	NM_000111.3(SLC26A3):c.972-19T>G	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016936	NM_000111.3(SLC26A3):c.1095C>T (p.Tyr365=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013020	NM_000111.3(SLC26A3):c.1514+2T>C	SLC26A3	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3011991	NM_000111.3(SLC26A3):c.1770A>C (p.Thr590=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011830	NM_000111.3(SLC26A3):c.1774-13T>A	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010535	NM_000111.3(SLC26A3):c.217T>C (p.Leu73=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010122	NM_000111.3(SLC26A3):c.1668T>C (p.Leu556=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008794	NM_000111.3(SLC26A3):c.1500G>A (p.Val500=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008762	NM_000111.3(SLC26A3):c.666G>A (p.Leu222=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008144	NM_000111.3(SLC26A3):c.2229T>C (p.Phe743=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007380	NM_000111.3(SLC26A3):c.382+16A>T	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007120	NM_000111.3(SLC26A3):c.2008-17A>G	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006480	NM_000111.3(SLC26A3):c.1312-5C>T	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004265	NM_000111.3(SLC26A3):c.1797C>T (p.Asp599=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004103	NM_000111.3(SLC26A3):c.971+7G>A	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002058	NM_000111.3(SLC26A3):c.1773+11T>G	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001113	NM_000111.3(SLC26A3):c.897T>C (p.Ile299=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000862	NM_000111.3(SLC26A3):c.889-20G>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000293	NM_000111.3(SLC26A3):c.1947C>T (p.Leu649=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997715	NM_000111.3(SLC26A3):c.1419C>T (p.Ile473=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996718	NM_000111.3(SLC26A3):c.1514+12A>G	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995866	NM_000111.3(SLC26A3):c.-3_13del (p.Met1fs)	SLC26A3 (M1fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2995119	NM_000111.3(SLC26A3):c.1515-18_1515-16del	SLC26A3	Deletion (intron variant)	not provided	GLikely benign
Select item 2994149	NM_000111.3(SLC26A3):c.971+10T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992071	NM_000111.3(SLC26A3):c.2063-18_2063-17del	SLC26A3	Deletion (intron variant)	not provided	GLikely benign
Select item 2991797	NM_000111.3(SLC26A3):c.1677+18T>G	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991206	NM_000111.3(SLC26A3):c.123G>A (p.Val41=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991148	NM_000111.3(SLC26A3):c.1077C>T (p.Ser359=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989672	NM_000111.3(SLC26A3):c.736-10A>G	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989002	NM_000111.3(SLC26A3):c.570+16T>A	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986733	NM_000111.3(SLC26A3):c.1194C>A (p.Ser398=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986447	NM_000111.3(SLC26A3):c.2205+10C>T	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984751	NM_000111.3(SLC26A3):c.1653C>T (p.Phe551=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983993	NM_000111.3(SLC26A3):c.2063-17T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983807	NM_000111.3(SLC26A3):c.2206-2A>G	SLC26A3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2983015	NM_000111.3(SLC26A3):c.1774-19T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982445	NM_000111.3(SLC26A3):c.736-18T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980988	NM_000111.3(SLC26A3):c.735+18C>G	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978603	NM_000111.3(SLC26A3):c.1774-4G>A	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977558	NM_000111.3(SLC26A3):c.1311+15G>A	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976605	NM_000111.3(SLC26A3):c.2271+13A>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976006	NM_000111.3(SLC26A3):c.2063-15T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973823	NM_000111.3(SLC26A3):c.2272-12_2272-9del	SLC26A3	Deletion (intron variant)	not provided	GLikely benign
Select item 2973457	NM_000111.3(SLC26A3):c.219G>A (p.Leu73=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972471	NM_000111.3(SLC26A3):c.555T>G (p.Leu185=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971657	NM_000111.3(SLC26A3):c.2063-10T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970206	NM_000111.3(SLC26A3):c.2063-9T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970173	NM_000111.3(SLC26A3):c.971+20T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969996	NM_000111.3(SLC26A3):c.271+14T>A	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969706	NM_000111.3(SLC26A3):c.271+19A>G	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969547	NM_000111.3(SLC26A3):c.2100T>C (p.Phe700=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968262	NM_000111.3(SLC26A3):c.1593G>A (p.Glu531=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964752	NM_000111.3(SLC26A3):c.1401T>C (p.Tyr467=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960558	NM_000111.3(SLC26A3):c.971+14C>T	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960182	NM_000111.3(SLC26A3):c.2063-9dup	SLC26A3	Duplication (intron variant)	not provided	GBenign
Select item 2959007	NM_000111.3(SLC26A3):c.1935C>T (p.Ser645=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958412	NM_000111.3(SLC26A3):c.1200A>T (p.Ser400=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956102	NM_000111.3(SLC26A3):c.1407+18T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954909	NM_000111.3(SLC26A3):c.570+17G>A	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919725	NM_000111.3(SLC26A3):c.1812T>C (p.Ser604=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912161	NM_000111.3(SLC26A3):c.1026T>C (p.Asp342=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901778	NM_000111.3(SLC26A3):c.2116dup (p.Ser706fs)	SLC26A3 (S706fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2901756	NM_000111.3(SLC26A3):c.958del (p.Asp320fs)	SLC26A3 (D320fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2898093	NM_000111.3(SLC26A3):c.1585-9G>A	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896204	NM_000111.3(SLC26A3):c.489G>A (p.Ser163=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894566	NM_000111.3(SLC26A3):c.2007+9T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894407	NM_000111.3(SLC26A3):c.1911C>T (p.Leu637=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890422	NM_000111.3(SLC26A3):c.1276C>T (p.Leu426=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890219	NM_000111.3(SLC26A3):c.1581T>C (p.Tyr527=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884959	NM_000111.3(SLC26A3):c.926_927del (p.Asp308_Phe309insTer)	SLC26A3	Deletion (nonsense)	not provided	GPathogenic
Select item 2881990	NM_000111.3(SLC26A3):c.2206-9T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881797	NM_000111.3(SLC26A3):c.387G>C (p.Pro129=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881209	NM_000111.3(SLC26A3):c.981C>G (p.Pro327=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880945	NM_000111.3(SLC26A3):c.1774-16T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880929	NM_000111.3(SLC26A3):c.1585-13C>A	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880703	NM_000111.3(SLC26A3):c.888+17A>G	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880525	NM_000111.3(SLC26A3):c.1009C>T (p.Gln337Ter)	SLC26A3 (Q337*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2880371	NM_000111.3(SLC26A3):c.1311+10T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879753	NM_000111.3(SLC26A3):c.1407+15T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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