ClinVar Miner

List of variants reported as likely pathogenic for Deafness, autosomal dominant 3a

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Total variants: 18
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HGVS dbSNP
NM_004004.6(GJB2):c.134del (p.Gly45fs) rs1057517491
NM_004004.6(GJB2):c.172C>T (p.Pro58Ser) rs1064797090
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter) rs199883710
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981
NM_004004.6(GJB2):c.31_68del (p.Gly11fs) rs397516873
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala) rs779018464
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508
NM_004004.6(GJB2):c.514del (p.Trp172fs) rs1057517508
NM_004004.6(GJB2):c.564_565del (p.Lys188fs) rs770116143
NM_004004.6(GJB2):c.573_574CA[1] (p.Thr192fs) rs1057517521
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg) rs786204597
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647

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