List of variants in gene GJB2 reported as likely pathogenic for Rare genetic deafness

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: 20

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.110T>C (p.Val37Ala)	rs141774369	0.00014
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)	rs104894408	0.00009
NM_004004.6(GJB2):c.119C>A (p.Ala40Glu)	rs111033296	0.00002
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys)	rs111033203	0.00002
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter)	rs111033451	0.00001
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro)	rs727504302	0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile)	rs397516871	0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)	rs111033295	0.00001
NM_004004.6(GJB2):c.-23G>T	rs786204734
NM_004004.6(GJB2):c.101T>G (p.Met34Arg)	rs35887622
NM_004004.6(GJB2):c.109G>T (p.Val37Phe)	rs72474224
NM_004004.6(GJB2):c.176G>A (p.Gly59Asp)	rs104894404
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)	rs1801002
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys)	rs727503066
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala)	rs779018464
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)	rs111033420
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)	rs80338941
NM_004004.6(GJB2):c.645del (p.Arg216fs)	rs1555341794
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)	rs587783647
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)	rs111033401

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