List of variants in gene GJB2 reported as likely benign for autosomal recessive nonsyndromic hearing loss 1A

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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: 27

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.*1197T>A	rs11841182	0.04451
NM_004004.6(GJB2):c.-15C>T	rs72561725	0.01589
NM_004004.6(GJB2):c.-216T>G	rs574815423	0.01243
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)	rs2274083	0.00499
NM_004004.6(GJB2):c.-6T>A	rs148136545	0.00355
NM_004004.6(GJB2):c.457G>A (p.Val153Ile)	rs111033186	0.00247
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.380G>A (p.Arg127His)	rs111033196	0.00143
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.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.675A>T (p.Pro225=)	rs563151740	0.00010
NM_004004.6(GJB2):c.177C>T (p.Gly59=)	rs375122728	0.00007
NM_004004.6(GJB2):c.24G>A (p.Thr8=)	rs533231493	0.00007
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.510C>T (p.Asn170=)	rs763068053	0.00002
NM_004004.6(GJB2):c.456C>T (p.Tyr152=)	rs111033420	0.00001
NM_004004.6(GJB2):c.474C>T (p.Tyr158=)	rs375759781	0.00001
NM_004004.6(GJB2):c.546G>A (p.Val182=)	rs752236261	0.00001
NM_004004.6(GJB2):c.108C>T (p.Leu36=)	rs138547875
NM_004004.6(GJB2):c.312G>A (p.Arg104=)	rs267603770

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