ClinVar Miner

List of variants in gene PCDH15 reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 290
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HGVS dbSNP gnomAD frequency
NM_001384140.1(PCDH15):c.594G>A (p.Pro198=) rs368308772 0.00006
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His) rs907693214 0.00003
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.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter) rs779165268 0.00002
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter) rs370261904 0.00001
NM_001384140.1(PCDH15):c.1305+2T>A rs2049531217 0.00001
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp) rs267606932 0.00001
NM_001384140.1(PCDH15):c.1915C>T (p.Gln639Ter) rs138983888 0.00001
NM_001384140.1(PCDH15):c.1997+1G>A rs763797356 0.00001
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs) rs781148814 0.00001
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342 0.00001
NM_001384140.1(PCDH15):c.3122+1G>T rs982893820 0.00001
NM_001384140.1(PCDH15):c.3373+1G>A rs2085799827 0.00001
NM_001384140.1(PCDH15):c.3433C>T (p.Gln1145Ter) rs1200451014 0.00001
NM_001384140.1(PCDH15):c.3717+2dup rs1248401224 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.3983+1G>T rs758921360 0.00001
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter) rs137853003 0.00001
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln) rs767966376 0.00001
NM_001384140.1(PCDH15):c.4211+2T>G rs753832779 0.00001
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter) rs1384677442 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NM_033056.4(PCDH15):c.4592_4627dup (p.Ser1543Ter) rs1442366836 0.00001
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs) rs747516133 0.00001
GRCh37/hg19 10q21.1(chr10:55581618-56288162)x6
NC_000010.10:g.(55663131_55698574)_(55945029_55955442)dup
NC_000010.10:g.(55849824_55892634)_(55943354_55944893)del
NC_000010.10:g.(55913054_55943203)_(55996692_56077030)del
NC_000010.10:g.(?_55580859)_(55591294_55600079)del
NC_000010.10:g.(?_55616915)_(55626637_?)dup
NC_000010.10:g.(?_55662993)_(55663140_?)dup
NC_000010.10:g.(?_55755389)_(55892787_?)dup
NC_000010.10:g.(?_55849734)_(55996701_?)dup
NC_000010.10:g.(?_55892683)_(55893842_?)del
NC_000010.10:g.(?_55912850)_(55935851_?)dup
NC_000010.10:g.(?_55943194)_(55996701_?)del
NC_000010.10:g.(?_56077021)_(56138712_?)dup
NC_000010.11:g.(?_53976705)_(54036062_?)del
NC_000010.11:g.(?_54369110)_(54378952_?)dup
NC_000010.11:g.(?_54690788)_(54898513_?)del
NC_000010.11:g.53995649_54022892del
NM_001142763.1(PCDH15):c.(?_-1)_(2235+1_2236-1)del
NM_001142763.1:c.-189197_c.610-5166del
NM_001384140.1(PCDH15):c.1013dup (p.His339fs)
NM_001384140.1(PCDH15):c.1073_1074del (p.His358fs)
NM_001384140.1(PCDH15):c.1075C>T (p.Gln359Ter) rs2051720336
NM_001384140.1(PCDH15):c.1102_1103del (p.Glu368fs)
NM_001384140.1(PCDH15):c.1105C>T (p.Gln369Ter)
NM_001384140.1(PCDH15):c.1167del (p.Asn389fs) rs1591095476
NM_001384140.1(PCDH15):c.1178C>T (p.Pro393Leu)
NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter) rs759187261
NM_001384140.1(PCDH15):c.1231G>T (p.Gly411Ter)
NM_001384140.1(PCDH15):c.1299del (p.Ile433fs)
NM_001384140.1(PCDH15):c.1305+1G>A rs758947077
NM_001384140.1(PCDH15):c.1305+1G>C rs758947077
NM_001384140.1(PCDH15):c.1305+1del rs1554833699
NM_001384140.1(PCDH15):c.1305+2T>G rs2049531217
NM_001384140.1(PCDH15):c.1306-1G>C rs1299990309
NM_001384140.1(PCDH15):c.1306-1G>T rs1299990309
NM_001384140.1(PCDH15):c.1306-2A>G
NM_001384140.1(PCDH15):c.1316del (p.Pro439fs)
NM_001384140.1(PCDH15):c.1322_1323insGTCTCTA (p.His442fs)
NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter) rs2133817680
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs) rs1193650682
NM_001384140.1(PCDH15):c.1423C>T (p.Gln475Ter)
NM_001384140.1(PCDH15):c.1430dup (p.Tyr477Ter)
NM_001384140.1(PCDH15):c.1431C>A (p.Tyr477Ter)
NM_001384140.1(PCDH15):c.1440+2T>C rs1363688830
NM_001384140.1(PCDH15):c.1441-2A>C rs758482449
NM_001384140.1(PCDH15):c.1454_1455del (p.Asp485fs)
NM_001384140.1(PCDH15):c.1462C>T (p.Gln488Ter) rs2133801342
NM_001384140.1(PCDH15):c.1495_1496insA (p.Val499fs)
NM_001384140.1(PCDH15):c.1515dup (p.Thr506fs)
NM_001384140.1(PCDH15):c.158-1G>T
NM_001384140.1(PCDH15):c.158-2A>T rs1304228309
NM_001384140.1(PCDH15):c.1590+1G>A rs2133799697
NM_001384140.1(PCDH15):c.1591-2A>C
NM_001384140.1(PCDH15):c.1627del (p.Glu543fs) rs1057516892
NM_001384140.1(PCDH15):c.1637_1638del (p.Thr545_Tyr546insTer) rs1554816541
NM_001384140.1(PCDH15):c.16del (p.Tyr6fs) rs397517451
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.1737C>G (p.Tyr579Ter) rs1057517251
NM_001384140.1(PCDH15):c.1738_1739del (p.Ala580fs)
NM_001384140.1(PCDH15):c.1738del (p.Ala580fs)
NM_001384140.1(PCDH15):c.1770_1771del (p.Pro591fs) rs1057517150
NM_001384140.1(PCDH15):c.1778_1784dup (p.Asn596fs)
NM_001384140.1(PCDH15):c.1784+1G>T
NM_001384140.1(PCDH15):c.1784+1_1784+12del rs2133336162
NM_001384140.1(PCDH15):c.1785-2A>C rs1057516474
NM_001384140.1(PCDH15):c.1806T>G (p.Tyr602Ter) rs1057517443
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs) rs1057517261
NM_001384140.1(PCDH15):c.1841del (p.Pro614fs)
NM_001384140.1(PCDH15):c.1913_1917+8del rs2133059770
NM_001384140.1(PCDH15):c.1917+1G>A
NM_001384140.1(PCDH15):c.1917+2T>C rs1554806149
NM_001384140.1(PCDH15):c.1918-1G>A
NM_001384140.1(PCDH15):c.1977_1978del (p.Arg659fs) rs2136049616
NM_001384140.1(PCDH15):c.1997+1G>T rs763797356
NM_001384140.1(PCDH15):c.1998-1G>A
NM_001384140.1(PCDH15):c.1998-2A>G rs397517452
NM_001384140.1(PCDH15):c.1A>G (p.Met1Val) rs1040514625
NM_001384140.1(PCDH15):c.2029_2044dup (p.Asp682delinsGlyGlnGlyLysHisTer) rs765906921
NM_001384140.1(PCDH15):c.2052C>A (p.Tyr684Ter) rs1554956088
NM_001384140.1(PCDH15):c.2091+1G>A rs2135947041
NM_001384140.1(PCDH15):c.2091+2T>C rs1554956023
NM_001384140.1(PCDH15):c.2092-2A>G
NM_001384140.1(PCDH15):c.2092-482_2092del
NM_001384140.1(PCDH15):c.2097_2098insG (p.Thr700fs)
NM_001384140.1(PCDH15):c.2107del (p.Thr702_Val703insTer)
NM_001384140.1(PCDH15):c.2118_2119insA (p.Val707fs)
NM_001384140.1(PCDH15):c.2151del (p.Phe717fs)
NM_001384140.1(PCDH15):c.2176_2188del (p.Ser726fs)
NM_001384140.1(PCDH15):c.2191G>T (p.Glu731Ter) rs2094144044
NM_001384140.1(PCDH15):c.2205del (p.Phe735fs)
NM_001384140.1(PCDH15):c.2208_2211del (p.Gly737fs)
NM_001384140.1(PCDH15):c.2220+1G>A rs2094143468
NM_001384140.1(PCDH15):c.22_23delinsC (p.Trp8fs)
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.2518_2519del (p.Gln840fs)
NM_001384140.1(PCDH15):c.251G>A (p.Trp84Ter)
NM_001384140.1(PCDH15):c.2526+2T>C rs2135319137
NM_001384140.1(PCDH15):c.2544del (p.Gly849fs)
NM_001384140.1(PCDH15):c.2624C>A (p.Ser875Ter) rs201328768
NM_001384140.1(PCDH15):c.2662C>T (p.Gln888Ter)
NM_001384140.1(PCDH15):c.2718_2719insGG (p.Pro907fs)
NM_001384140.1(PCDH15):c.274C>T (p.Gln92Ter) rs143842048
NM_001384140.1(PCDH15):c.2793C>G (p.Tyr931Ter) rs2091805733
NM_001384140.1(PCDH15):c.2822del (p.Lys941fs)
NM_001384140.1(PCDH15):c.2825_2828dup (p.Pro944fs)
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs) rs758685587
NM_001384140.1(PCDH15):c.2868+1G>A rs1589821731
NM_001384140.1(PCDH15):c.2868+2T>A
NM_001384140.1(PCDH15):c.2868+2T>C rs2091798175
NM_001384140.1(PCDH15):c.2869-1G>A rs1554883705
NM_001384140.1(PCDH15):c.2869-1G>T rs1554883705
NM_001384140.1(PCDH15):c.2898_2899del (p.Arg966fs)
NM_001384140.1(PCDH15):c.2919_2923del (p.Tyr974fs) rs2134302083
NM_001384140.1(PCDH15):c.2922C>G (p.Tyr974Ter)
NM_001384140.1(PCDH15):c.2952_2953delinsC (p.Ser985fs)
NM_001384140.1(PCDH15):c.299del (p.Gly100fs) rs1554940316
NM_001384140.1(PCDH15):c.29del (p.Cys10fs) rs1555135419
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.3023del (p.Ala1008fs) rs1057517284
NM_001384140.1(PCDH15):c.3029A>G (p.Asp1010Gly) rs776416750
NM_001384140.1(PCDH15):c.3037G>T (p.Glu1013Ter)
NM_001384140.1(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer) rs1554882652
NM_001384140.1(PCDH15):c.3082del (p.His1028fs) rs1057517325
NM_001384140.1(PCDH15):c.3112G>T (p.Glu1038Ter)
NM_001384140.1(PCDH15):c.3122+1G>A rs982893820
NM_001384140.1(PCDH15):c.3122+2T>A rs1554882546
NM_001384140.1(PCDH15):c.3123-1G>A rs1554873550
NM_001384140.1(PCDH15):c.3144dup (p.Ala1049fs)
NM_001384140.1(PCDH15):c.3152_3153insC (p.Lys1051fs)
NM_001384140.1(PCDH15):c.318+1G>A
NM_001384140.1(PCDH15):c.3204_3205del (p.Tyr1069fs)
NM_001384140.1(PCDH15):c.3211del (p.Ile1071fs) rs1057516974
NM_001384140.1(PCDH15):c.3232+1G>A
NM_001384140.1(PCDH15):c.3233-2A>G rs1554872194
NM_001384140.1(PCDH15):c.323del (p.Pro108fs) rs1554934073
NM_001384140.1(PCDH15):c.3300_3319dup (p.Val1107fs)
NM_001384140.1(PCDH15):c.333dup (p.His112fs) rs1057516992
NM_001384140.1(PCDH15):c.3341del (p.Val1114fs) rs1057516656
NM_001384140.1(PCDH15):c.3373+2T>C
NM_001384140.1(PCDH15):c.3374-1G>T rs1554852472
NM_001384140.1(PCDH15):c.3374-2A>G
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_001384140.1(PCDH15):c.3462_3463del (p.Glu1155fs)
NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs) rs746865307
NM_001384140.1(PCDH15):c.3488del (p.Val1163fs)
NM_001384140.1(PCDH15):c.3495_3496del (p.Arg1165fs) rs2133664431
NM_001384140.1(PCDH15):c.3499A>T (p.Lys1167Ter)
NM_001384140.1(PCDH15):c.3501+1G>A rs1402893508
NM_001384140.1(PCDH15):c.3501+1G>T rs1402893508
NM_001384140.1(PCDH15):c.3501+2T>C rs757418440
NM_001384140.1(PCDH15):c.3502-2A>G rs1554836566
NM_001384140.1(PCDH15):c.355del (p.Gln119fs)
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs) rs1057517264
NM_001384140.1(PCDH15):c.3600T>A (p.Tyr1200Ter)
NM_001384140.1(PCDH15):c.3606del (p.Ile1204fs)
NM_001384140.1(PCDH15):c.3612del (p.Thr1206fs)
NM_001384140.1(PCDH15):c.3613A>T (p.Lys1205Ter)
NM_001384140.1(PCDH15):c.3653del (p.Phe1218fs) rs1057516268
NM_001384140.1(PCDH15):c.366del (p.Asn122fs) rs1589072933
NM_001384140.1(PCDH15):c.3717+1G>A rs748706627
NM_001384140.1(PCDH15):c.3717+1G>C rs748706627
NM_001384140.1(PCDH15):c.3717+1G>T rs748706627
NM_001384140.1(PCDH15):c.3717+1del
NM_001384140.1(PCDH15):c.371_372delinsT (p.Lys124fs)
NM_001384140.1(PCDH15):c.3731_3734del (p.Asn1244fs) rs1554833314
NM_001384140.1(PCDH15):c.3745C>T (p.Gln1249Ter)
NM_001384140.1(PCDH15):c.3751del (p.Ile1251fs)
NM_001384140.1(PCDH15):c.3788del (p.Lys1263fs)
NM_001384140.1(PCDH15):c.3791_3794del (p.Ile1264fs) rs1554833249
NM_001384140.1(PCDH15):c.3792_3798dup (p.Leu1267fs) rs1554833242
NM_001384140.1(PCDH15):c.3806+1G>C rs1554833227
NM_001384140.1(PCDH15):c.3806+1G>T
NM_001384140.1(PCDH15):c.3885_3889dup (p.Ala1297fs) rs1057516780
NM_001384140.1(PCDH15):c.3907del (p.Tyr1303fs)
NM_001384140.1(PCDH15):c.3910_3911del (p.Thr1304fs)
NM_001384140.1(PCDH15):c.3981dup (p.Lys1328Ter)
NM_001384140.1(PCDH15):c.3982dup (p.Phe1329fs)
NM_001384140.1(PCDH15):c.3984-1G>C rs1057520709
NM_001384140.1(PCDH15):c.3984-1G>T rs1057520709
NM_001384140.1(PCDH15):c.3984-2A>C
NM_001384140.1(PCDH15):c.3984-2A>G rs1554824185
NM_001384140.1(PCDH15):c.3984-2A>T rs1554824185
NM_001384140.1(PCDH15):c.3989del (p.Leu1330fs)
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly) rs137853003
NM_001384140.1(PCDH15):c.4015A>T (p.Lys1339Ter)
NM_001384140.1(PCDH15):c.4034_4035del (p.Tyr1345fs)
NM_001384140.1(PCDH15):c.4094dup (p.Arg1366fs)
NM_001384140.1(PCDH15):c.4098_4099dup (p.Gly1367fs)
NM_001384140.1(PCDH15):c.4126del (p.Ala1376fs)
NM_001384140.1(PCDH15):c.416_444del (p.Asp139fs) rs1057517182
NM_001384140.1(PCDH15):c.417C>G (p.Asp139Glu) rs2134714388
NM_001384140.1(PCDH15):c.4197_4198insGTAG (p.Arg1400fs) rs1057516821
NM_001384140.1(PCDH15):c.4203-1G>A rs2076841806
NM_001384140.1(PCDH15):c.4208_4209del (p.Lys1403fs) rs2132598205
NM_001384140.1(PCDH15):c.4211+1G>A rs1554823229
NM_001384140.1(PCDH15):c.4211+1G>T
NM_001384140.1(PCDH15):c.4211+1del rs1554823231
NM_001384140.1(PCDH15):c.4211+2dup rs1057517419
NM_001384140.1(PCDH15):c.4212-1G>A rs2132580888
NM_001384140.1(PCDH15):c.4223_4226dup (p.Cys1409Ter)
NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter) rs1057516472
NM_001384140.1(PCDH15):c.4231_4234dup (p.Thr1412fs) rs1554822897
NM_001384140.1(PCDH15):c.4237_4238del (p.Ala1413fs) rs1554822891
NM_001384140.1(PCDH15):c.42del (p.Ile15fs)
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4313del (p.Pro1438fs) rs1057516351
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.475-2204_594+1766del
NM_001384140.1(PCDH15):c.475-2A>C
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.594+1G>T rs1057516470
NM_001384140.1(PCDH15):c.595-2A>C rs1939028166
NM_001384140.1(PCDH15):c.60_63del (p.Phe21fs)
NM_001384140.1(PCDH15):c.647T>G (p.Leu216Ter) rs1554903979
NM_001384140.1(PCDH15):c.705+1G>A rs1554903842
NM_001384140.1(PCDH15):c.705+5G>A
NM_001384140.1(PCDH15):c.706-2A>G
NM_001384140.1(PCDH15):c.706-3_717del rs769348776
NM_001384140.1(PCDH15):c.738_739insT (p.Thr247fs)
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.811dup (p.Val271fs)
NM_001384140.1(PCDH15):c.838_839delinsG (p.Leu280fs)
NM_001384140.1(PCDH15):c.84T>A (p.Tyr28Ter) rs903145299
NM_001384140.1(PCDH15):c.876+1G>C rs2133646979
NM_001384140.1(PCDH15):c.876+2T>C
NM_001384140.1(PCDH15):c.901dup (p.Thr301fs) rs1057517048
NM_001384140.1(PCDH15):c.91+1G>A rs1565887701
NM_001384140.1(PCDH15):c.915dup (p.Ala306fs)
NM_001384140.1(PCDH15):c.985+1G>C rs2134387647
NM_033056.4(PCDH15):c.4368-15_4368-2del rs1057516560
NM_033056.4(PCDH15):c.4368-2A>T rs989521806
NM_033056.4(PCDH15):c.4368-3_4369dup rs866966373
NM_033056.4(PCDH15):c.4389del (p.Gln1464fs) rs35296328
NM_033056.4(PCDH15):c.4409_4413del (p.Asn1470fs) rs749884609
NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer) rs1233449433
NM_033056.4(PCDH15):c.4603_4607del (p.Gln1535fs) rs771473483
NM_033056.4(PCDH15):c.4632del (p.Arg1545fs) rs2132507580
NM_033056.4(PCDH15):c.4733_4736del (p.Val1578fs)
NM_033056.4(PCDH15):c.4851_4854del (p.Asn1617fs)
NM_033056.4(PCDH15):c.5029_5032dup (p.Ser1678fs) rs773160902
NM_033056.4(PCDH15):c.5052_5055dup (p.Glu1686fs) rs2132498513
NM_033056.4(PCDH15):c.5054C>G (p.Ser1685Ter)
NM_033056.4(PCDH15):c.5254_5280del (p.Pro1752_Pro1760del) rs767526540
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs) rs753690225
NM_033056.4(PCDH15):c.5671G>A (p.Glu1891Lys)
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs) rs1287068204
NM_033056.4(PCDH15):c.5847_5848del (p.His1949fs) rs781339303

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