ClinVar Miner

List of variants reported as likely benign by Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_144773.4(PROKR2):c.991G>A (p.Val331Met) rs117106081 0.00088
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser) rs117966637 0.00035
NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp) rs78644690 0.00035
NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile) rs202199158 0.00026
NM_005422.4(TECTA):c.5488G>A (p.Val1830Met) rs189181502 0.00011
NM_006096.4(NDRG1):c.874C>A (p.Leu292Ile) rs745520295 0.00010
NM_001852.4(COL9A2):c.1237C>T (p.Pro413Ser) rs201985170 0.00009
NM_005982.4(SIX1):c.705G>T (p.Gln235His) rs747474509 0.00004
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_014208.3(DSPP):c.1031C>A (p.Thr344Asn) rs767387863 0.00003
NM_002160.4(TNC):c.2340G>T (p.Glu780Asp) rs201169030 0.00001
NM_000088.4(COL1A1):c.1241C>T (p.Ala414Val) rs1598296885
NM_000088.4(COL1A1):c.3538C>A (p.Pro1180Thr) rs764463806
NM_002968.3(SALL1):c.3322G>A (p.Val1108Ile) rs148931484
NM_005219.5(DIAPH1):c.2007G>T (p.Leu669Phe) rs1284785470
NM_005422.4(TECTA):c.29G>C (p.Trp10Ser) rs1591433475

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