List of variants in gene GJB1 reported as pathogenic by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000166.6(GJB1):c.415G>A (p.Val139Met)	rs104894812	0.00001
NM_000166.6(GJB1):c.394_395del (p.Trp132fs)	rs1555937168
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln)	rs863224974
NM_000166.6(GJB1):c.548G>A (p.Arg183His)	rs1555937233
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)	rs116840821
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys)	rs1555937270
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)	rs1555937020
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter)	rs104894814
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)	rs1060501002

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