List of variants in gene GJB1 reported by GeneReviews

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)	rs104894825	0.00295
NM_000166.6(GJB1):c.415G>A (p.Val139Met)	rs104894812	0.00001
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp)	rs116840816
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro)	rs116840817
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.225del (p.Leu76fs)	rs116840820
NM_000166.6(GJB1):c.407T>C (p.Val136Ala)	rs104894826
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)	rs116840815
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr)	rs116840822
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)	rs116840821
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser)	rs104894822
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe)	rs116840823

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