List of variants in gene GJB2 reported as likely benign for autosomal dominant nonsyndromic hearing loss 3A

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.-216T>G	rs574815423	0.01243
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00966
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)	rs2274083	0.00499
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00354
NM_004004.6(GJB2):c.*1016A>G	rs537683957	0.00158
NM_004004.6(GJB2):c.*3C>A	rs111033460	0.00155
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)	rs111033218	0.00150
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)	rs34988750	0.00107
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)	rs111033222	0.00059
NM_004004.6(GJB2):c.*1C>T	rs111033327	0.00045
NM_004004.6(GJB2):c.*1033G>A	rs185790172	0.00026
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)	rs150529554	0.00016
NM_004004.6(GJB2):c.241C>G (p.Leu81Val)	rs145216882	0.00015
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)	rs111033188	0.00014
NM_004004.6(GJB2):c.120A>C (p.Ala40=)	rs561870637	0.00012
NM_004004.6(GJB2):c.37G>A (p.Val13Met)	rs768130937	0.00010
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)	rs376898963	0.00006
NM_004004.6(GJB2):c.195C>T (p.Tyr65=)	rs763572195	0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)	rs397516878	0.00003
NM_004004.6(GJB2):c.510C>T (p.Asn170=)	rs763068053	0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	rs104894396	0.00002
NM_004004.6(GJB2):c.474C>T (p.Tyr158=)	rs375759781	0.00001
NM_004004.6(GJB2):c.546G>A (p.Val182=)	rs752236261	0.00001

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