List of variants in gene GJB1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000166.6(GJB1):c.235C>T (p.Leu79=)	rs144717157	0.00186
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly)	rs779696968	0.00001
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn)	rs768834663	0.00001
NM_000166.6(GJB1):c.112G>A (p.Val38Met)	rs879254012
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)	rs116840819
NM_000166.6(GJB1):c.283G>A (p.Val95Met)	rs104894821
NM_000166.6(GJB1):c.287C>T (p.Ala96Val)	rs11551260
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)	rs786204123
NM_000166.6(GJB1):c.52A>G (p.Thr18Ala)	rs1555937012
NM_000166.6(GJB1):c.77C>T (p.Ser26Leu)	rs587777876

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