ClinVar Miner

List of variants reported as likely pathogenic for autosomal dominant nonsyndromic hearing loss by Institute of Rare Diseases, West China Hospital, Sichuan University

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_004086.3(COCH):c.263G>T (p.Gly88Val) rs121908928 0.00001
NM_001046.3(SLC12A2):c.2959C>T (p.Gln987Ter)
NM_001046.3(SLC12A2):c.2977+1G>A
NM_001142966.3(GREB1L):c.1323del (p.Gly441_Leu442insTer)
NM_001142966.3(GREB1L):c.1987_1992del
NM_001142966.3(GREB1L):c.5278G>T (p.Glu1760Ter)
NM_001142966.3(GREB1L):c.768del (p.Ser257fs)
NM_001371333.1(DIABLO):c.381GGA[1] (p.Glu129del)
NM_001614.5(ACTG1):c.494T>A (p.Ile165Asn)
NM_001614.5(ACTG1):c.494T>C (p.Ile165Thr) rs2143778877
NM_002700.3(POU4F3):c.130_136del (p.Asn44fs)
NM_002700.3(POU4F3):c.296_297dup (p.Pro100fs)
NM_002700.3(POU4F3):c.371C>A (p.Ser124Ter)
NM_002700.3(POU4F3):c.413C>A (p.Ser138Ter)
NM_002700.3(POU4F3):c.592C>G (p.Arg198Gly)
NM_002700.3(POU4F3):c.608_610dup (p.Val203_Thr204insMet)
NM_002700.3(POU4F3):c.631G>C (p.Ala211Pro)
NM_002700.3(POU4F3):c.671G>A (p.Ser224Asn)
NM_002700.3(POU4F3):c.97C>T (p.Arg33Ter)
NM_004086.3(COCH):c.1412T>G (p.Val471Gly)
NM_004086.3(COCH):c.152C>A (p.Pro51Gln)
NM_004086.3(COCH):c.1547C>A (p.Pro516Gln)
NM_004086.3(COCH):c.1547C>G (p.Pro516Arg)
NM_004086.3(COCH):c.340C>G (p.Leu114Val)
NM_004100.5(EYA4):c.1173T>A (p.Tyr391Ter)
NM_004100.5(EYA4):c.1173T>G (p.Tyr391Ter)
NM_004100.5(EYA4):c.1200dup (p.Met401fs)
NM_004100.5(EYA4):c.1486A>T (p.Lys496Ter)
NM_004100.5(EYA4):c.1519A>T (p.Lys507Ter)
NM_004100.5(EYA4):c.310_314del (p.Asn104fs)
NM_004100.5(EYA4):c.725-2A>G
NM_004100.5(EYA4):c.838C>T (p.Gln280Ter)
NM_004700.4(KCNQ4):c.1107T>A (p.Tyr369Ter)
NM_004700.4(KCNQ4):c.721G>C (p.Ala241Pro)
NM_004839.4(HOMER2):c.1023_1029del (p.Asp342fs)
NM_004999.4(MYO6):c.2677G>T (p.Glu893Ter)
NM_006005.3(WFS1):c.2605_2616dup (p.His872_Gly873insSerThrValHis)
NM_024915.4(GRHL2):c.1318C>T (p.Gln440Ter)
NM_024915.4(GRHL2):c.1698+1G>A
NM_080680.3(COL11A2):c.3582+2_3582+3del
NM_177398.4(LMX1A):c.596G>A (p.Arg199Lys)

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