ClinVar Miner

List of variants in gene PCDH15 studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 243
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HGVS dbSNP
NC_000010.11:g.53809350C>A
NC_000010.11:g.53822084C>A
NC_000010.11:g.53822388G>A
NC_000010.11:g.53822880T>C
NC_000010.11:g.53827417_53827418del
NC_000010.11:g.53840352G>A
NC_000010.11:g.54369132G>A
NC_000010.11:g.54378931C>T
NM_001142769.3(PCDH15):c.4410-921A>G rs115559383
NM_001142769.3(PCDH15):c.4487G>A (p.Gly1496Asp) rs41274622
NM_001142769.3(PCDH15):c.4498_4500GAA[1] (p.Glu1501del) rs561144747
NM_001142769.3(PCDH15):c.5295A>G (p.Pro1765=) rs145178582
NM_001142771.2(PCDH15):c.*14A>G rs876657950
NM_001142771.2(PCDH15):c.4497+1028dup rs1554815895
NM_001142771.2(PCDH15):c.4497+1046A>G rs201855435
NM_001142771.2(PCDH15):c.4497+1053A>C rs149208928
NM_001142771.2(PCDH15):c.4497+1066_4497+1068del rs1554815871
NM_001142771.2(PCDH15):c.4497+1087C>T rs12359240
NM_001142771.2(PCDH15):c.4497+1109C>T rs145418788
NM_001142771.2(PCDH15):c.4497+1114A>C rs16937769
NM_001142771.2(PCDH15):c.4497+1164_4497+1167del rs483353074
NM_001142771.2(PCDH15):c.4497+1223C>T rs566386133
NM_001142771.2(PCDH15):c.4497+1344A>C rs11003863
NM_001142771.2(PCDH15):c.4497+1344_4497+1345delinsCC rs1554815737
NM_001142771.2(PCDH15):c.4497+1345G>C rs531574437
NM_001142771.2(PCDH15):c.4497+1355A>G rs372184022
NM_001142771.2(PCDH15):c.4497+1418T>C rs730880021
NM_001142771.2(PCDH15):c.4497+1438A>C rs16937768
NM_001142771.2(PCDH15):c.4497+1449_4497+1457dup rs752753497
NM_001142771.2(PCDH15):c.4497+1595GAA[3] rs730880019
NM_001142771.2(PCDH15):c.4497+1642T>C rs182175548
NM_001142771.2(PCDH15):c.4498-1586T>C rs572152722
NM_001142771.2(PCDH15):c.4498-1607delinsAGT rs730880020
NM_001142771.2(PCDH15):c.4498-1637G>A rs139441645
NM_001142771.2(PCDH15):c.4498-1657del rs876657949
NM_001142771.2(PCDH15):c.4498-1699G>A rs7090408
NM_001142771.2(PCDH15):c.4554_4556dup (p.Thr1519dup) rs143978284
NM_001142771.2(PCDH15):c.4584G>A (p.Gln1528=) rs368096085
NM_001142771.2(PCDH15):c.4627G>A (p.Gly1543Ser) rs181306086
NM_001142771.2(PCDH15):c.4686G>A (p.Thr1562=) rs148772706
NM_001142771.2(PCDH15):c.4717C>T (p.Leu1573=) rs200155519
NM_001142771.2(PCDH15):c.4931_4934dup (p.Ser1646_Lys1647insTer) rs770322907
NM_001142771.2(PCDH15):c.4950G>A (p.Lys1650=) rs74609306
NM_001142771.2(PCDH15):c.4982A>C (p.Gln1661Pro) rs17704703
NM_033056.3(PCDH15):c.1917+33_1917+34dup rs5785040
NM_033056.3(PCDH15):c.4368-13_4368-10dup rs530804327
NM_033056.4(PCDH15):c.-5A>G rs142016527
NM_033056.4(PCDH15):c.1028G>A (p.Arg343Lys) rs141169746
NM_033056.4(PCDH15):c.1039C>T (p.Leu347Phe) rs111033436
NM_033056.4(PCDH15):c.1045C>G (p.Leu349Val) rs1554841242
NM_033056.4(PCDH15):c.1102G>A (p.Glu368Lys) rs1554833865
NM_033056.4(PCDH15):c.1121C>T (p.Pro374Leu) rs397517449
NM_033056.4(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269
NM_033056.4(PCDH15):c.1141C>G (p.Leu381Val) rs373453298
NM_033056.4(PCDH15):c.1169A>G (p.Asn390Ser) rs397517450
NM_033056.4(PCDH15):c.1181A>G (p.Tyr394Cys) rs148533341
NM_033056.4(PCDH15):c.1195A>G (p.Ser399Gly) rs199786639
NM_033056.4(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164
NM_033056.4(PCDH15):c.1256A>G (p.Asn419Ser) rs143827620
NM_033056.4(PCDH15):c.1263T>C (p.Thr421=) rs7921598
NM_033056.4(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502
NM_033056.4(PCDH15):c.1306-4123C>T rs16905686
NM_033056.4(PCDH15):c.1339G>A (p.Asp447Asn) rs150509146
NM_033056.4(PCDH15):c.1360G>A (p.Val454Ile) rs61735473
NM_033056.4(PCDH15):c.1362C>T (p.Val454=) rs61735479
NM_033056.4(PCDH15):c.1537T>C (p.Ser513Pro) rs876657951
NM_033056.4(PCDH15):c.1590+17_1590+21del rs202125339
NM_033056.4(PCDH15):c.1590+20= rs7093302
NM_033056.4(PCDH15):c.1590+20A>G rs7093302
NM_033056.4(PCDH15):c.1606G>C (p.Ala536Pro) rs140516168
NM_033056.4(PCDH15):c.161C>T (p.Thr54Ile) rs727505253
NM_033056.4(PCDH15):c.1653G>A (p.Gly551=) rs141281651
NM_033056.4(PCDH15):c.1702G>A (p.Ala568Thr) rs61730754
NM_033056.4(PCDH15):c.1784+11T>G rs769008985
NM_033056.4(PCDH15):c.1900G>A (p.Val634Ile) rs146199636
NM_033056.4(PCDH15):c.1910A>G (p.Asn637Ser) rs61731389
NM_033056.4(PCDH15):c.1917+13GT[10] rs5785040
NM_033056.4(PCDH15):c.195T>C (p.Thr65=) rs770371293
NM_033056.4(PCDH15):c.1985A>G (p.Asn662Ser) rs373731707
NM_033056.4(PCDH15):c.1998-13G>A rs727504616
NM_033056.4(PCDH15):c.2051A>G (p.Tyr684Cys) rs372076259
NM_033056.4(PCDH15):c.2092-6T>C rs780684363
NM_033056.4(PCDH15):c.2102C>T (p.Ala701Val) rs199537178
NM_033056.4(PCDH15):c.2194G>A (p.Ala732Thr) rs148162562
NM_033056.4(PCDH15):c.2290C>T (p.Arg764Cys) rs192813057
NM_033056.4(PCDH15):c.2354A>G (p.Tyr785Cys) rs753912234
NM_033056.4(PCDH15):c.2361_2363TGT[2] (p.Val790del) rs483352837
NM_033056.4(PCDH15):c.2379T>C (p.Asp793=) rs148920891
NM_033056.4(PCDH15):c.2385A>G (p.Ala795=) rs61731362
NM_033056.4(PCDH15):c.2396G>A (p.Arg799His) rs199824864
NM_033056.4(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445
NM_033056.4(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363
NM_033056.4(PCDH15):c.2439T>A (p.Asp813Glu) rs397517453
NM_033056.4(PCDH15):c.243G>A (p.Val81=) rs151119732
NM_033056.4(PCDH15):c.2538C>T (p.Val846=) rs727504573
NM_033056.4(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738
NM_033056.4(PCDH15):c.2581G>A (p.Val861Met) rs142512524
NM_033056.4(PCDH15):c.2625G>A (p.Ser875=) rs111033516
NM_033056.4(PCDH15):c.2691G>C (p.Glu897Asp) rs876657952
NM_033056.4(PCDH15):c.2717C>T (p.Pro906Leu) rs374205826
NM_033056.4(PCDH15):c.2721T>G (p.Pro907=) rs727504835
NM_033056.4(PCDH15):c.2728G>T (p.Ala910Ser) rs139175351
NM_033056.4(PCDH15):c.2751+2T>C rs754543131
NM_033056.4(PCDH15):c.2751+37C>T rs3812658
NM_033056.4(PCDH15):c.2751+43C>G rs2660169
NM_033056.4(PCDH15):c.2769T>C (p.Pro923=) rs727503366
NM_033056.4(PCDH15):c.2786G>A (p.Arg929Gln) rs2135720
NM_033056.4(PCDH15):c.2811G>A (p.Pro937=) rs1449039709
NM_033056.4(PCDH15):c.2823G>T (p.Lys941Asn) rs773599066
NM_033056.4(PCDH15):c.2859A>C (p.Ala953=) rs375965861
NM_033056.4(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080
NM_033056.4(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_033056.4(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_033056.4(PCDH15):c.2936T>C (p.Phe979Ser) rs150891423
NM_033056.4(PCDH15):c.2990A>G (p.Glu997Gly) rs139087859
NM_033056.4(PCDH15):c.2992C>G (p.Pro998Ala) rs397517454
NM_033056.4(PCDH15):c.3010-48G>A rs2593107
NM_033056.4(PCDH15):c.3018G>T (p.Val1006=) rs41307518
NM_033056.4(PCDH15):c.3122+3A>G rs373365331
NM_033056.4(PCDH15):c.3131C>T (p.Pro1044Leu) rs397517455
NM_033056.4(PCDH15):c.319-31T>C rs11594958
NM_033056.4(PCDH15):c.3195A>G (p.Gln1065=) rs776720353
NM_033056.4(PCDH15):c.3276T>C (p.Asn1092=) rs772160626
NM_033056.4(PCDH15):c.330C>T (p.Asn110=) rs146796009
NM_033056.4(PCDH15):c.3327T>C (p.Ala1109=) rs1554871942
NM_033056.4(PCDH15):c.3373+3A>G rs397517456
NM_033056.4(PCDH15):c.3374-16G>A rs139684809
NM_033056.4(PCDH15):c.3374-4C>T rs111739360
NM_033056.4(PCDH15):c.343G>A (p.Val115Met) rs143570915
NM_033056.4(PCDH15):c.3444C>T (p.Phe1148=) rs876657562
NM_033056.4(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475
NM_033056.4(PCDH15):c.3498G>A (p.Val1166=) rs1554852336
NM_033056.4(PCDH15):c.3501+13A>G rs727503365
NM_033056.4(PCDH15):c.3502-14del rs5785023
NM_033056.4(PCDH15):c.3502-22dup rs5785023
NM_033056.4(PCDH15):c.3502-8C>T rs184144118
NM_033056.4(PCDH15):c.3521G>A (p.Gly1174Asp) rs150387187
NM_033056.4(PCDH15):c.3532G>A (p.Val1178Ile) rs147835286
NM_033056.4(PCDH15):c.3585T>C (p.Phe1195=) rs397517457
NM_033056.4(PCDH15):c.3667A>T (p.Ile1223Phe) rs752490775
NM_033056.4(PCDH15):c.369A>G (p.Lys123=) rs1317246200
NM_033056.4(PCDH15):c.3717+8G>C rs200556301
NM_033056.4(PCDH15):c.3718-19C>A rs75248212
NM_033056.4(PCDH15):c.3719T>A (p.Val1240Asp) rs397517458
NM_033056.4(PCDH15):c.3724G>A (p.Val1242Met) rs201137087
NM_033056.4(PCDH15):c.3795A>T (p.Glu1265Asp) rs111033496
NM_033056.4(PCDH15):c.3807-6T>G rs727504791
NM_033056.4(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363
NM_033056.4(PCDH15):c.3877C>A (p.Arg1293=) rs142034111
NM_033056.4(PCDH15):c.3936A>G (p.Ala1312=) rs398124433
NM_033056.4(PCDH15):c.3983+12T>C rs149867749
NM_033056.4(PCDH15):c.3984-20C>T rs7089209
NM_033056.4(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387
NM_033056.4(PCDH15):c.4080G>A (p.Val1360=) rs111033499
NM_033056.4(PCDH15):c.4103A>G (p.Glu1368Gly) rs111033449
NM_033056.4(PCDH15):c.4213C>G (p.Arg1405Gly) rs148046721
NM_033056.4(PCDH15):c.4249G>A (p.Ala1417Thr) rs1284117885
NM_033056.4(PCDH15):c.4314G>A (p.Pro1438=) rs535913178
NM_033056.4(PCDH15):c.4317G>A (p.Pro1439=) rs370470900
NM_033056.4(PCDH15):c.4334C>G (p.Ala1445Gly) rs146745502
NM_033056.4(PCDH15):c.4343A>G (p.Tyr1448Cys) rs397517459
NM_033056.4(PCDH15):c.4367+8G>A rs727504745
NM_033056.4(PCDH15):c.4368-3A>C rs1564540949
NM_033056.4(PCDH15):c.4368T>A (p.Ile1456=) rs140748627
NM_033056.4(PCDH15):c.4463A>G (p.Asn1488Ser) rs201534861
NM_033056.4(PCDH15):c.4568G>A (p.Ser1523Asn) rs1377421029
NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=) rs10825114
NM_033056.4(PCDH15):c.4592A>G (p.Glu1531Gly) rs397517460
NM_033056.4(PCDH15):c.4599_4602dup (p.Gln1535fs) rs781231890
NM_033056.4(PCDH15):c.466G>C (p.Val156Leu) rs534173969
NM_033056.4(PCDH15):c.4677G>A (p.Lys1559=) rs375077719
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter) rs730880357
NM_033056.4(PCDH15):c.470A>G (p.Asn157Ser) rs727503368
NM_033056.4(PCDH15):c.4733T>C (p.Val1578Ala) rs139915181
NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=) rs767811568
NM_033056.4(PCDH15):c.475-3C>T rs41304641
NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu) rs397517461
NM_033056.4(PCDH15):c.4788T>G (p.Asp1596Glu) rs200659780
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874
NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs) rs545191822
NM_033056.4(PCDH15):c.4837G>A (p.Gly1613Arg) rs876657563
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362
NM_033056.4(PCDH15):c.4884T>C (p.Thr1628=) rs16937781
NM_033056.4(PCDH15):c.4925G>A (p.Gly1642Asp) rs745335831
NM_033056.4(PCDH15):c.4974A>C (p.Ser1658=) rs147993163
NM_033056.4(PCDH15):c.5033C>T (p.Ser1678Leu) rs143438666
NM_033056.4(PCDH15):c.5048T>G (p.Leu1683Arg) rs727504812
NM_033056.4(PCDH15):c.5189T>A (p.Ile1730Asn) rs727503364
NM_033056.4(PCDH15):c.5245_5247CCT[3] (p.Pro1752del) rs397517462
NM_033056.4(PCDH15):c.5260_5268TCTCCTCCT[1] (p.1754_1756SPP[1]) rs727503363
NM_033056.4(PCDH15):c.5269_5280del (p.Ser1757_Pro1760del) rs397517463
NM_033056.4(PCDH15):c.5278C>A (p.Pro1760Thr) rs397517464
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del) rs373916538
NM_033056.4(PCDH15):c.5280_5342del (p.Ala1761_Pro1781del) rs1554820012
NM_033056.4(PCDH15):c.5281_5286GCTCCT[1] (p.1761_1762AP[1]) rs397517465
NM_033056.4(PCDH15):c.5283T>A (p.Ala1761=) rs375134176
NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=) rs58461416
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del) rs557936064
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup) rs397517466
NM_033056.4(PCDH15):c.5327_5335del (p.Leu1776_Cys1778del) rs397517467
NM_033056.4(PCDH15):c.5334T>C (p.Cys1778=) rs727503362
NM_033056.4(PCDH15):c.5346T>A (p.Ser1782=) rs397517468
NM_033056.4(PCDH15):c.5349T>G (p.Pro1783=) rs727505113
NM_033056.4(PCDH15):c.5352T>A (p.Pro1784=) rs727505100
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro) rs144261647
NM_033056.4(PCDH15):c.5358C>A (p.Ile1786=) rs727503361
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390
NM_033056.4(PCDH15):c.5363_5368TTCCTC[1] (p.1788_1789LP[1]) rs779691085
NM_033056.4(PCDH15):c.5372C>T (p.Pro1791Leu) rs1268531021
NM_033056.4(PCDH15):c.5397C>T (p.Ser1799=) rs367881384
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983
NM_033056.4(PCDH15):c.5422C>A (p.Pro1808Thr) rs727505235
NM_033056.4(PCDH15):c.5424A>C (p.Pro1808=) rs753289924
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636
NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=) rs150303579
NM_033056.4(PCDH15):c.546A>G (p.Gly182=) rs34164469
NM_033056.4(PCDH15):c.5543G>T (p.Cys1848Phe) rs752231055
NM_033056.4(PCDH15):c.5550C>A (p.Thr1850=) rs112097891
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu) rs145903555
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445
NM_033056.4(PCDH15):c.5598_5600AAC[1] (p.Thr1869del) rs113363047
NM_033056.4(PCDH15):c.55T>G (p.Ser19Ala) rs11004439
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346
NM_033056.4(PCDH15):c.5614A>G (p.Lys1872Glu) rs147727092
NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val) rs79854148
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His) rs145851144
NM_033056.4(PCDH15):c.575A>G (p.Gln192Arg) rs201496062
NM_033056.4(PCDH15):c.593C>T (p.Pro198Leu) rs145232643
NM_033056.4(PCDH15):c.607A>G (p.Thr203Ala) rs200975767
NM_033056.4(PCDH15):c.679C>T (p.Arg227Cys) rs565693539
NM_033056.4(PCDH15):c.706-8= rs10740579
NM_033056.4(PCDH15):c.706-8C>T rs10740579
NM_033056.4(PCDH15):c.709C>T (p.Arg237Cys) rs200798008
NM_033056.4(PCDH15):c.734G>A (p.Arg245Gln) rs562377533
NM_033056.4(PCDH15):c.809T>G (p.Leu270Arg) rs727503367
NM_033056.4(PCDH15):c.877-29G>T rs116339167
NM_033056.4(PCDH15):c.913C>G (p.Gln305Glu) rs143058902
NM_033056.4(PCDH15):c.942A>G (p.Gln314=) rs149481989
NM_033056.4(PCDH15):c.947C>T (p.Pro316Leu) rs397517469
NM_033056.4(PCDH15):c.949T>A (p.Ser317Thr) rs140736502
NM_033056.4(PCDH15):c.960A>G (p.Pro320=) rs41274634
NM_033056.4(PCDH15):c.974C>T (p.Ser325Phe) rs145011716

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