List of variants in gene GJB1 reported as pathogenic by GeneDx

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: 33

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HGVS	dbSNP	gnomAD frequency
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp)	rs863224973	0.00005
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly)	rs779696968	0.00001
NM_000166.6(GJB1):c.424C>T (p.Arg142Trp)	rs104894810	0.00001
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp)	rs139643362	0.00001
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln)	rs1241595912	0.00001
NM_000166.6(GJB1):c.-103C>T	rs863224971
NM_000166.6(GJB1):c.112G>A (p.Val38Met)	rs879254012
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile)	rs104894824
NM_000166.6(GJB1):c.187G>A (p.Val63Ile)	rs116840818
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)	rs116840819
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln)	rs863224972
NM_000166.6(GJB1):c.231G>A (p.Trp77Ter)	rs879254096
NM_000166.6(GJB1):c.260C>T (p.Pro87Leu)	rs1602349021
NM_000166.6(GJB1):c.283G>A (p.Val95Met)	rs104894821
NM_000166.6(GJB1):c.396del (p.Trp132fs)	rs879253946
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)	rs786204123
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)	rs116840815
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln)	rs863224974
NM_000166.6(GJB1):c.462T>G (p.Tyr154Ter)	rs879254098
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg)	rs104894818
NM_000166.6(GJB1):c.524dup (p.Asn175fs)	rs1569215346
NM_000166.6(GJB1):c.541G>A (p.Val181Met)	rs879253909
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys)	rs863224471
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)	rs116840821
NM_000166.6(GJB1):c.556G>T (p.Glu186Ter)	rs116840821
NM_000166.6(GJB1):c.605T>A (p.Ile202Asn)	rs1131691258
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys)	rs1555937270
NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter)	rs1569215443
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp)	rs879254099
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.77C>T (p.Ser26Leu)	rs587777876
NM_000166.6(GJB1):c.99_103dup (p.Val35fs)	rs1602348726

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