List of variants studied for autosomal dominant nonsyndromic hearing loss 3A by GeneReviews

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00966
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)	rs28931593	0.00001
NM_004004.6(GJB2):c.131G>C (p.Trp44Ser)	rs104894413
NM_004004.6(GJB2):c.132G>C (p.Trp44Cys)	rs104894407
NM_004004.6(GJB2):c.136G>A (p.Asp46Asn)	rs1064797088
NM_004004.6(GJB2):c.164C>A (p.Thr55Asn)	rs1064797089
NM_004004.6(GJB2):c.172C>G (p.Pro58Ala)	rs1064797090
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)	rs104894402
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)	rs104894401
NM_004004.6(GJB2):c.487A>C (p.Met163Leu)	rs80338949
NM_004004.6(GJB2):c.535G>A (p.Asp179Asn)	rs28931595
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)	rs80338950
NM_004004.6(GJB2):c.605G>T (p.Cys202Phe)	rs104894406

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