List of variants in gene GJB1 reported as likely pathogenic for X-linked disease

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: 37

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HGVS	dbSNP	gnomAD frequency
NM_000166.6(GJB1):c.37G>A (p.Val13Met)	rs104894820	0.00006
NM_000166.6(GJB1):c.320G>A (p.Arg107Gln)	rs1383588318	0.00001
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn)	rs768834663	0.00001
NM_000166.6(GJB1):c.*15C>T	rs1057520778
NM_000166.6(GJB1):c.-103C>T	rs863224971
NM_000166.6(GJB1):c.-16-2A>G	rs751230398
NM_000166.6(GJB1):c.118G>T (p.Ala40Ser)	rs1602348782
NM_000166.6(GJB1):c.124A>T (p.Ser42Cys)	rs1602348801
NM_000166.6(GJB1):c.127G>A (p.Val43Met)	rs1602348804
NM_000166.6(GJB1):c.137A>G (p.Asp46Gly)	rs1602348820
NM_000166.6(GJB1):c.1A>G (p.Met1Val)
NM_000166.6(GJB1):c.21C>A (p.Tyr7Ter)
NM_000166.6(GJB1):c.272T>A (p.Val91Glu)
NM_000166.6(GJB1):c.272T>C (p.Val91Ala)
NM_000166.6(GJB1):c.283G>A (p.Val95Met)	rs104894821
NM_000166.6(GJB1):c.287C>G (p.Ala96Gly)	rs11551260
NM_000166.6(GJB1):c.386G>A (p.Gly129Glu)	rs1602349280
NM_000166.6(GJB1):c.392T>C (p.Leu131Pro)	rs1555937166
NM_000166.6(GJB1):c.406_407dup (p.Ile137fs)
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)	rs786204123
NM_000166.6(GJB1):c.42C>G (p.Asn14Lys)	rs1262031967
NM_000166.6(GJB1):c.445T>A (p.Phe149Ile)	rs1602349369
NM_000166.6(GJB1):c.44G>C (p.Arg15Pro)
NM_000166.6(GJB1):c.455T>C (p.Val152Ala)
NM_000166.6(GJB1):c.467T>A (p.Leu156His)	rs104894818
NM_000166.6(GJB1):c.502T>G (p.Cys168Gly)	rs1057518780
NM_000166.6(GJB1):c.514C>G (p.Pro172Ala)	rs104894811
NM_000166.6(GJB1):c.520C>G (p.Pro174Ala)	rs2147946493
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu)	rs1602349603
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys)	rs863224471
NM_000166.6(GJB1):c.548G>C (p.Arg183Pro)	rs1555937233
NM_000166.6(GJB1):c.584T>C (p.Leu195Pro)	rs1569215413
NM_000166.6(GJB1):c.592T>G (p.Ser198Ala)	rs1555937259
NM_000166.6(GJB1):c.593C>T (p.Ser198Phe)	rs1602349716
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp)	rs879254099
NM_000166.6(GJB1):c.644G>C (p.Arg215Pro)	rs864622215
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)	rs1060501002

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