"Invitae"[submitter] AND "DKKL1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 780579	NM_014419.4(DKKL1):c.497G>A (p.Arg166Gln)	DKKL1, LOC101928295 (R166Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778852	NM_014419.4(DKKL1):c.719G>A (p.Arg240Gln)	DKKL1, LOC101928295 (R165Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	PTOV1-AS2, SLC17A7 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance

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