ClinVar Miner

List of variants in gene PCDH15 reported as likely pathogenic for auditory system disorder

Included ClinVar conditions (325):
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Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs) rs774056663 0.00003
NM_001384140.1(PCDH15):c.2751+2T>C rs754543131 0.00002
NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter) rs779165268 0.00002
NM_001384140.1(PCDH15):c.1997+1G>A rs763797356 0.00001
NM_001384140.1(PCDH15):c.3806+2T>C rs756692340 0.00001
NM_001384140.1(PCDH15):c.3807-2A>G rs1328440878 0.00001
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln) rs767966376 0.00001
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter) rs1384677442 0.00001
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs) rs747516133 0.00001
NC_000010.11:g.53995649_54022892del
NM_001384140.1(PCDH15):c.1013dup (p.His339fs)
NM_001384140.1(PCDH15):c.1075C>T (p.Gln359Ter) rs2051720336
NM_001384140.1(PCDH15):c.1178C>T (p.Pro393Leu)
NM_001384140.1(PCDH15):c.1299del (p.Ile433fs)
NM_001384140.1(PCDH15):c.1306-1G>T rs1299990309
NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter) rs2133817680
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs) rs1193650682
NM_001384140.1(PCDH15):c.1430dup (p.Tyr477Ter)
NM_001384140.1(PCDH15):c.1431C>A (p.Tyr477Ter)
NM_001384140.1(PCDH15):c.1462C>T (p.Gln488Ter) rs2133801342
NM_001384140.1(PCDH15):c.158-2A>T rs1304228309
NM_001384140.1(PCDH15):c.1591-2A>C
NM_001384140.1(PCDH15):c.1717_1729del (p.Met573fs)
NM_001384140.1(PCDH15):c.1728del (p.Arg577fs)
NM_001384140.1(PCDH15):c.1736dup (p.Tyr579Ter) rs1264383341
NM_001384140.1(PCDH15):c.1738_1739del (p.Ala580fs)
NM_001384140.1(PCDH15):c.1738del (p.Ala580fs)
NM_001384140.1(PCDH15):c.1778_1784dup (p.Asn596fs)
NM_001384140.1(PCDH15):c.1784+1G>T
NM_001384140.1(PCDH15):c.1841del (p.Pro614fs)
NM_001384140.1(PCDH15):c.1917+1G>A
NM_001384140.1(PCDH15):c.1977_1978del (p.Arg659fs) rs2136049616
NM_001384140.1(PCDH15):c.2029_2044dup (p.Asp682delinsGlyGlnGlyLysHisTer) rs765906921
NM_001384140.1(PCDH15):c.2092-2A>G
NM_001384140.1(PCDH15):c.2107del (p.Thr702_Val703insTer)
NM_001384140.1(PCDH15):c.2151del (p.Phe717fs)
NM_001384140.1(PCDH15):c.2191G>T (p.Glu731Ter) rs2094144044
NM_001384140.1(PCDH15):c.2347del (p.Asp783fs) rs2135322143
NM_001384140.1(PCDH15):c.2356G>T (p.Glu786Ter)
NM_001384140.1(PCDH15):c.2388dup (p.His797fs)
NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs) rs757027638
NM_001384140.1(PCDH15):c.2544del (p.Gly849fs)
NM_001384140.1(PCDH15):c.2662C>T (p.Gln888Ter)
NM_001384140.1(PCDH15):c.2718_2719insGG (p.Pro907fs)
NM_001384140.1(PCDH15):c.2793C>G (p.Tyr931Ter) rs2091805733
NM_001384140.1(PCDH15):c.2825_2828dup (p.Pro944fs)
NM_001384140.1(PCDH15):c.2869-1G>T rs1554883705
NM_001384140.1(PCDH15):c.2919_2923del (p.Tyr974fs) rs2134302083
NM_001384140.1(PCDH15):c.2922C>G (p.Tyr974Ter)
NM_001384140.1(PCDH15):c.3009+1G>C
NM_001384140.1(PCDH15):c.3009+1G>T
NM_001384140.1(PCDH15):c.3010-1G>C rs2134277047
NM_001384140.1(PCDH15):c.3037G>T (p.Glu1013Ter)
NM_001384140.1(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer) rs1554882652
NM_001384140.1(PCDH15):c.3122+1G>A rs982893820
NM_001384140.1(PCDH15):c.3300_3319dup (p.Val1107fs)
NM_001384140.1(PCDH15):c.3373+2T>C
NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs) rs746865307
NM_001384140.1(PCDH15):c.3499A>T (p.Lys1167Ter)
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs) rs1057517264
NM_001384140.1(PCDH15):c.3606del (p.Ile1204fs)
NM_001384140.1(PCDH15):c.3612del (p.Thr1206fs)
NM_001384140.1(PCDH15):c.366del (p.Asn122fs) rs1589072933
NM_001384140.1(PCDH15):c.3717+1G>C rs748706627
NM_001384140.1(PCDH15):c.371_372delinsT (p.Lys124fs)
NM_001384140.1(PCDH15):c.3751del (p.Ile1251fs)
NM_001384140.1(PCDH15):c.3981dup (p.Lys1328Ter)
NM_001384140.1(PCDH15):c.3982dup (p.Phe1329fs)
NM_001384140.1(PCDH15):c.3984-2A>C
NM_001384140.1(PCDH15):c.3989del (p.Leu1330fs)
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly) rs137853003
NM_001384140.1(PCDH15):c.4094dup (p.Arg1366fs)
NM_001384140.1(PCDH15):c.4126del (p.Ala1376fs)
NM_001384140.1(PCDH15):c.417C>G (p.Asp139Glu) rs2134714388
NM_001384140.1(PCDH15):c.4223_4226dup (p.Cys1409Ter)
NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter) rs1057516472
NM_001384140.1(PCDH15):c.42del (p.Ile15fs)
NM_001384140.1(PCDH15):c.4367+1G>A rs1057516613
NM_001384140.1(PCDH15):c.4367+2251G>A
NM_001384140.1(PCDH15):c.4367+2T>C rs1554822703
NM_001384140.1(PCDH15):c.4367+2dup
NM_001384140.1(PCDH15):c.457dup (p.Tyr153fs)
NM_001384140.1(PCDH15):c.475-2A>G
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs) rs766484375
NM_001384140.1(PCDH15):c.567T>A (p.Tyr189Ter) rs1943288780
NM_001384140.1(PCDH15):c.574C>T (p.Gln192Ter) rs1943286459
NM_001384140.1(PCDH15):c.754_755insAA (p.Thr252fs) rs2133652254
NM_001384140.1(PCDH15):c.788C>A (p.Pro263Gln) rs1564949059
NM_001384140.1(PCDH15):c.876+2T>C
NM_001384140.1(PCDH15):c.91+1G>A rs1565887701
NM_001384140.1(PCDH15):c.915dup (p.Ala306fs)
NM_033056.4(PCDH15):c.4389del (p.Gln1464fs) rs35296328
NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer) rs1233449433

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