"Invitae"[submitter] AND "LOC126653388"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3022602	NM_001256317.3(TMPRSS3):c.94+15G>A	LOC126653388, TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802351	NM_001256317.3(TMPRSS3):c.94+11C>T	LOC126653388, TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020689	NM_001256317.3(TMPRSS3):c.94+9A>G	LOC126653388, TMPRSS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871965	NM_001256317.3(TMPRSS3):c.94+2T>C	LOC126653388, TMPRSS3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1954502	NM_001256317.3(TMPRSS3):c.83C>T (p.Pro28Leu)	LOC126653388, TMPRSS3 (P28L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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