ClinVar Miner

List of variants in gene PCDH15 studied for Usher syndrome, type 1F

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 280
Download table as spreadsheet
HGVS dbSNP
NM_001142769.3(PCDH15):c.4410-943G>A rs1554816509
NM_001142769.3(PCDH15):c.4450C>A (p.Pro1484Thr) rs1554816211
NM_001142769.3(PCDH15):c.4454C>T (p.Pro1485Leu) rs1554816210
NM_001142769.3(PCDH15):c.4465G>T (p.Glu1489Ter) rs1554816196
NM_001142769.3(PCDH15):c.4492_4503del (p.Ala1498_Glu1501del) rs1554816165
NM_001142769.3(PCDH15):c.4519-1G>A rs1554815909
NM_001142771.2(PCDH15):c.4497+1077_4497+1082del rs1253885211
NM_001142771.2(PCDH15):c.4497+1257_4497+1258del rs1554815781
NM_001142771.2(PCDH15):c.4497+1297_4497+1300dup rs1343032451
NM_001142771.2(PCDH15):c.4497+1355_4497+1359dup rs1554815732
NM_001142771.2(PCDH15):c.4497+1403GAG[5] rs1272584101
NM_001142771.2(PCDH15):c.4497+1412G>T rs1467453189
NM_001142771.2(PCDH15):c.4497+1420del rs778088114
NM_001142771.2(PCDH15):c.4497+1511_4497+1519del rs1554815654
NM_001142771.2(PCDH15):c.4497+1523G>T rs755005336
NM_001142771.2(PCDH15):c.4497+1550C>T rs765589050
NM_001142771.2(PCDH15):c.4497+1559C>T rs368397508
NM_001142771.2(PCDH15):c.4497+1577GAA[3] rs774006219
NM_001142771.2(PCDH15):c.4497+1617_4497+1637del rs769671738
NM_001142771.2(PCDH15):c.4497+1708_4497+1711dup rs1554815534
NM_001142771.2(PCDH15):c.4498-1564T>C rs193186244
NM_001142771.2(PCDH15):c.4498-1648_4498-1644dup rs1554815468
NM_001142771.2(PCDH15):c.4498-1662del rs1554815484
NM_001142771.2(PCDH15):c.4498-1666G>T rs1297423576
NM_001142771.2(PCDH15):c.4498-1709_4498-1706dup rs1554815527
NM_001142771.2(PCDH15):c.4498-2A>G rs1554814991
NM_001142771.2(PCDH15):c.4514_4517dup (p.Lys1507fs) rs1442769492
NM_001142771.2(PCDH15):c.4534C>T (p.Arg1512Ter) rs770416107
NM_001142771.2(PCDH15):c.4548del (p.Ser1517fs) rs778963761
NM_001142771.2(PCDH15):c.4555_4560dup (p.Thr1519_Gly1520dup) rs1554814938
NM_001142771.2(PCDH15):c.4565_4568dup (p.Ser1523fs) rs1554814927
NM_001142771.2(PCDH15):c.4654_4661del (p.Ser1552fs) rs750833316
NM_001142771.2(PCDH15):c.4692_4695dup (p.Lys1566fs) rs757520086
NM_001142771.2(PCDH15):c.4740del (p.Asp1581fs) rs1554814800
NM_001142771.2(PCDH15):c.4814_4817dup (p.Met1606fs) rs760669176
NM_001142771.2(PCDH15):c.4816dup (p.Met1606fs) rs766484375
NM_001142771.2(PCDH15):c.4869_4871dup (p.Asn1624dup) rs1554814729
NM_001142771.2(PCDH15):c.4880T>C (p.Val1627Ala) rs755487351
NM_001142771.2(PCDH15):c.4908_4909CA[1] (p.Thr1637fs) rs1320916581
NM_001142771.2(PCDH15):c.4908_4915del (p.Ser1636fs) rs1554814684
NM_001142771.2(PCDH15):c.4918C>T (p.Gln1640Ter) rs1554814683
NM_001142771.2(PCDH15):c.4932_4935dup (p.Ser1646Ter) rs1198732380
NM_001142771.2(PCDH15):c.4934_4937dup (p.Ser1646fs) rs1554814669
NM_001142771.2(PCDH15):c.4986_4988TGA[2] (p.Asp1664del) rs1554814635
NM_001142771.2(PCDH15):c.5041A>T (p.Lys1681Ter) rs1554814611
NM_033056.4(PCDH15):c.-5_-3AGA[1] (p.Met1del) rs1555135527
NM_033056.4(PCDH15):c.1006C>T (p.Arg336Ter) rs370261904
NM_033056.4(PCDH15):c.1088del (p.Leu363fs) rs199469706
NM_033056.4(PCDH15):c.1305+1G>A rs758947077
NM_033056.4(PCDH15):c.1305+1G>C rs758947077
NM_033056.4(PCDH15):c.1305+1del rs1554833699
NM_033056.4(PCDH15):c.1456G>A (p.Gly486Ser) rs1196401374
NM_033056.4(PCDH15):c.157+59097T>C rs75443986
NM_033056.4(PCDH15):c.158-16930T>C rs207470941
NM_033056.4(PCDH15):c.158-2A>T rs1304228309
NM_033056.4(PCDH15):c.1591C>T (p.Leu531Phe) rs750009006
NM_033056.4(PCDH15):c.1627del (p.Glu543fs) rs1057516892
NM_033056.4(PCDH15):c.1635_1636AT[1] (p.Thr545_Tyr546insTer) rs1554816541
NM_033056.4(PCDH15):c.16del (p.Tyr6fs) rs397517451
NM_033056.4(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_033056.4(PCDH15):c.1770_1771del (p.Pro591fs) rs1057517150
NM_033056.4(PCDH15):c.1785-2A>C rs1057516474
NM_033056.4(PCDH15):c.1806T>G (p.Tyr602Ter) rs1057517443
NM_033056.4(PCDH15):c.1830_1833del (p.Asn610fs) rs1057517261
NM_033056.4(PCDH15):c.1915C>T (p.Gln639Ter) rs138983888
NM_033056.4(PCDH15):c.1917+2T>C rs1554806149
NM_033056.4(PCDH15):c.1924G>A (p.Asp642Asn) rs1455035148
NM_033056.4(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301
NM_033056.4(PCDH15):c.1940C>G (p.Ser647Ter) rs137853004
NM_033056.4(PCDH15):c.1997+1G>T rs763797356
NM_033056.4(PCDH15):c.1998-2A>G rs397517452
NM_033056.4(PCDH15):c.1A>G (p.Met1Val) rs1040514625
NM_033056.4(PCDH15):c.2047C>T (p.Arg683Cys) rs573043647
NM_033056.4(PCDH15):c.2052C>A (p.Tyr684Ter) rs1554956088
NM_033056.4(PCDH15):c.2091+2T>C rs1554956023
NM_033056.4(PCDH15):c.2361_2363TGT[2] (p.Val790del) rs483352837
NM_033056.4(PCDH15):c.2419dup (p.Ile807fs) rs781148814
NM_033056.4(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363
NM_033056.4(PCDH15):c.2487dup (p.Glu830fs) rs757027638
NM_033056.4(PCDH15):c.2624C>A (p.Ser875Ter) rs201328768
NM_033056.4(PCDH15):c.2717C>T (p.Pro906Leu) rs374205826
NM_033056.4(PCDH15):c.2728G>T (p.Ala910Ser) rs139175351
NM_033056.4(PCDH15):c.274C>T (p.Gln92Ter) rs143842048
NM_033056.4(PCDH15):c.2751+2T>C rs754543131
NM_033056.4(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342
NM_033056.4(PCDH15):c.2825del (p.Gly942fs) rs758685587
NM_033056.4(PCDH15):c.2869-1G>T rs1554883705
NM_033056.4(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_033056.4(PCDH15):c.2971C>T (p.Arg991Ter) rs754391973
NM_033056.4(PCDH15):c.2992C>G (p.Pro998Ala) rs397517454
NM_033056.4(PCDH15):c.299del (p.Gly100fs) rs1554940316
NM_033056.4(PCDH15):c.29del (p.Cys10fs) rs1555135419
NM_033056.4(PCDH15):c.3023del (p.Ala1008fs) rs1057517284
NM_033056.4(PCDH15):c.3082del (p.His1028fs) rs1057517325
NM_033056.4(PCDH15):c.3122+2T>A rs1554882546
NM_033056.4(PCDH15):c.3123-1G>A rs1554873550
NM_033056.4(PCDH15):c.3211del (p.Ile1071fs) rs1057516974
NM_033056.4(PCDH15):c.3233-2A>G rs1554872194
NM_033056.4(PCDH15):c.323del (p.Pro108fs) rs1554934073
NM_033056.4(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121
NM_033056.4(PCDH15):c.333dup (p.His112fs) rs1057516992
NM_033056.4(PCDH15):c.3341del (p.Val1114fs) rs1057516656
NM_033056.4(PCDH15):c.3374-1G>T rs1554852472
NM_033056.4(PCDH15):c.3416_3418ATC[1] (p.His1140del) rs1554852410
NM_033056.4(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_033056.4(PCDH15):c.3501+13A>G rs727503365
NM_033056.4(PCDH15):c.3501+1G>T rs1402893508
NM_033056.4(PCDH15):c.3502-2A>G rs1554836566
NM_033056.4(PCDH15):c.358_359del (p.Cys120fs) rs1057517264
NM_033056.4(PCDH15):c.3653del (p.Phe1218fs) rs1057516268
NM_033056.4(PCDH15):c.3717+1G>A rs748706627
NM_033056.4(PCDH15):c.3717+2dup rs1248401224
NM_033056.4(PCDH15):c.3731_3734del (p.Asn1244fs) rs1554833314
NM_033056.4(PCDH15):c.3791_3794del (p.Ile1264fs) rs1554833249
NM_033056.4(PCDH15):c.3792_3798dup (p.Leu1267fs) rs1554833242
NM_033056.4(PCDH15):c.3806+1G>C rs1554833227
NM_033056.4(PCDH15):c.3806+2T>C rs756692340
NM_033056.4(PCDH15):c.3807-2A>G rs1328440878
NM_033056.4(PCDH15):c.3807-6T>G rs727504791
NM_033056.4(PCDH15):c.3862T>C (p.Ser1288Pro) rs1554827269
NM_033056.4(PCDH15):c.3885_3889dup (p.Ala1297fs) rs1057516780
NM_033056.4(PCDH15):c.3983+1G>T rs758921360
NM_033056.4(PCDH15):c.3983+2dup rs1554827124
NM_033056.4(PCDH15):c.3984-1G>C rs1057520709
NM_033056.4(PCDH15):c.3984-2A>G rs1554824185
NM_033056.4(PCDH15):c.4006_4008dup (p.Asp1336dup) rs1554824158
NM_033056.4(PCDH15):c.400C>T (p.Arg134Ter) rs137853003
NM_033056.4(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387
NM_033056.4(PCDH15):c.4114_4119del (p.Tyr1372_Thr1373del) rs1394411772
NM_033056.4(PCDH15):c.4118C>T (p.Thr1373Ile) rs756490783
NM_033056.4(PCDH15):c.4127C>A (p.Ala1376Asp) rs752371584
NM_033056.4(PCDH15):c.4147del (p.Ile1383fs) rs1554824058
NM_033056.4(PCDH15):c.416_444del (p.Asp139fs) rs1057517182
NM_033056.4(PCDH15):c.4197_4198insGTAG (p.Arg1400fs) rs1057516821
NM_033056.4(PCDH15):c.4211+1G>A rs1554823229
NM_033056.4(PCDH15):c.4211+1del rs1554823231
NM_033056.4(PCDH15):c.4211+2T>G rs753832779
NM_033056.4(PCDH15):c.4211+2dup rs1057517419
NM_033056.4(PCDH15):c.4214G>A (p.Arg1405His) rs143538460
NM_033056.4(PCDH15):c.4227T>A (p.Cys1409Ter) rs1057516472
NM_033056.4(PCDH15):c.4231_4234dup (p.Thr1412fs) rs1554822897
NM_033056.4(PCDH15):c.4237_4238del (p.Ala1413fs) rs1554822891
NM_033056.4(PCDH15):c.4247_4258del (p.Gln1416_Leu1419del) rs1296979751
NM_033056.4(PCDH15):c.4305_4310dup (p.Pro1442_Pro1443dup) rs1327987212
NM_033056.4(PCDH15):c.4308_4310GCC[2] (p.Pro1441_Pro1443del) rs559130985
NM_033056.4(PCDH15):c.4308_4310GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_033056.4(PCDH15):c.4308_4310GCC[9] (p.Pro1440_Pro1443dup) rs559130985
NM_033056.4(PCDH15):c.4313del (p.Pro1438fs) rs1057516351
NM_033056.4(PCDH15):c.4317_4328dup (p.Pro1440_Pro1443dup) rs1554822754
NM_033056.4(PCDH15):c.4367+1G>A rs1057516613
NM_033056.4(PCDH15):c.4367+2T>C rs1554822703
NM_033056.4(PCDH15):c.4368-14TCTTT[3] rs1452730552
NM_033056.4(PCDH15):c.4368-15_4368-2del rs1057516560
NM_033056.4(PCDH15):c.4368-1_4369dup rs1554821139
NM_033056.4(PCDH15):c.4368-2A>T rs989521806
NM_033056.4(PCDH15):c.4368-3_4379dup rs1554821131
NM_033056.4(PCDH15):c.4368-76C>T rs375657329
NM_033056.4(PCDH15):c.4368-77G>A rs776152870
NM_033056.4(PCDH15):c.4368-77del rs1554821197
NM_033056.4(PCDH15):c.4368-79_4368-76del rs1554821194
NM_033056.4(PCDH15):c.4383C>A (p.Tyr1461Ter) rs1033803342
NM_033056.4(PCDH15):c.4399_4410dup (p.Arg1467_Asn1470dup) rs1554821093
NM_033056.4(PCDH15):c.4409_4413dup (p.Val1472fs) rs749884609
NM_033056.4(PCDH15):c.4410_4420del (p.Asn1470fs) rs767621707
NM_033056.4(PCDH15):c.4435_4437CAA[1] (p.Gln1480del) rs1358121247
NM_033056.4(PCDH15):c.4546_4553dup (p.Glu1519fs) rs1554820916
NM_033056.4(PCDH15):c.4548_4551del (p.Ser1517fs) rs1233449433
NM_033056.4(PCDH15):c.4556_4557dup (p.Asp1520fs) rs1554820902
NM_033056.4(PCDH15):c.4561_4565dup (p.Ser1523fs) rs1554820894
NM_033056.4(PCDH15):c.4563_4566dup (p.Ser1523fs) rs1554820891
NM_033056.4(PCDH15):c.4603_4607del (p.Gln1535fs) rs771473483
NM_033056.4(PCDH15):c.4618del (p.Ser1540fs) rs1554820847
NM_033056.4(PCDH15):c.4621_4624dup (p.Ile1542fs) rs1363726588
NM_033056.4(PCDH15):c.4639_4656dup (p.Asp1547_Phe1552dup) rs1554820809
NM_033056.4(PCDH15):c.4705_4708dup (p.Ile1570fs) rs1554820749
NM_033056.4(PCDH15):c.4724_4726dup (p.Gln1576_Ser1577insArg) rs762814533
NM_033056.4(PCDH15):c.4725_4728TCAG[4] (p.Leu1580fs) rs770063261
NM_033056.4(PCDH15):c.4726C>T (p.Gln1576Ter) rs758204385
NM_033056.4(PCDH15):c.4754dup (p.Met1585fs) rs1554820712
NM_033056.4(PCDH15):c.4768_4771dup (p.Arg1591delinsLysTer) rs1554820690
NM_033056.4(PCDH15):c.4769_4771dup (p.Asn1590dup) rs1554820687
NM_033056.4(PCDH15):c.4792C>T (p.Gln1598Ter) rs1554820663
NM_033056.4(PCDH15):c.4812del (p.Arg1604fs) rs1554820651
NM_033056.4(PCDH15):c.4813C>T (p.Gln1605Ter) rs1554820648
NM_033056.4(PCDH15):c.4832del (p.Asn1611fs) rs1554820630
NM_033056.4(PCDH15):c.4834dup (p.Thr1612fs) rs1554820628
NM_033056.4(PCDH15):c.4853_4864dup (p.Lys1618_Ser1621dup) rs1554820580
NM_033056.4(PCDH15):c.4875_4894del (p.Leu1626fs) rs772393186
NM_033056.4(PCDH15):c.4875_4896del (p.Leu1625fs) rs1240582095
NM_033056.4(PCDH15):c.4895_4897dup (p.Leu1633_Thr1634insTyr) rs1554820541
NM_033056.4(PCDH15):c.4905_4907dup (p.Lys1636dup) rs750133663
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs) rs1491209806
NM_033056.4(PCDH15):c.4915_4918dup (p.Arg1640fs) rs780945310
NM_033056.4(PCDH15):c.4921C>T (p.Gln1641Ter) rs1484672299
NM_033056.4(PCDH15):c.4925del (p.Gly1642fs) rs1554820498
NM_033056.4(PCDH15):c.4936A>G (p.Met1646Val) rs141103437
NM_033056.4(PCDH15):c.4955_4963dup (p.Ser1655Ter) rs1554820445
NM_033056.4(PCDH15):c.4964_4965CT[3] (p.Ser1657fs) rs1491078644
NM_033056.4(PCDH15):c.4968_4970dup (p.Ser1658dup) rs1554820428
NM_033056.4(PCDH15):c.4973C>A (p.Ser1658Ter) rs902963615
NM_033056.4(PCDH15):c.4983_4986dup (p.Cys1663fs) rs1554820394
NM_033056.4(PCDH15):c.4987dup (p.Cys1663fs) rs775238614
NM_033056.4(PCDH15):c.5003_5007dup (p.Ser1670fs) rs1554820378
NM_033056.4(PCDH15):c.5014_5022dup (p.Ser1672_Leu1674dup) rs1554820353
NM_033056.4(PCDH15):c.5029_5032dup (p.Ser1678fs) rs773160902
NM_033056.4(PCDH15):c.5047_5050dup (p.Lys1684fs) rs1554820332
NM_033056.4(PCDH15):c.5061_5067dup (p.Ile1690Ter) rs1554820318
NM_033056.4(PCDH15):c.5109_5129del (p.Arg1704_Ser1710del) rs1554820270
NM_033056.4(PCDH15):c.5134_5135CT[5] (p.Arg1714delinsLeuTer) rs1554820255
NM_033056.4(PCDH15):c.5161_5162del (p.Met1721fs) rs1554820230
NM_033056.4(PCDH15):c.5193dup (p.Glu1732Ter) rs1554820212
NM_033056.4(PCDH15):c.5252_5259del (p.Pro1751fs) rs1554820145
NM_033056.4(PCDH15):c.5254_5280del (p.Pro1752_Pro1760del) rs767526540
NM_033056.4(PCDH15):c.5257_5262del (p.Ile1753_Ser1754del) rs1554820140
NM_033056.4(PCDH15):c.5257_5268dup (p.Ile1753_Pro1756dup) rs756858099
NM_033056.4(PCDH15):c.5257_5277del (p.Ile1753_Pro1759del) rs752658191
NM_033056.4(PCDH15):c.5266_5319del (p.Pro1756_Pro1773del) rs1554820050
NM_033056.4(PCDH15):c.5269_5295del (p.Ser1757_Leu1765del) rs957797299
NM_033056.4(PCDH15):c.5272_5274CCT[1] (p.Pro1759_Pro1760del) rs754779351
NM_033056.4(PCDH15):c.5272_5274CCT[4] (p.Pro1760dup) rs754779351
NM_033056.4(PCDH15):c.5274_5278del (p.Pro1759fs) rs1554820127
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del) rs373916538
NM_033056.4(PCDH15):c.5294_5302dup (p.Leu1765_Pro1767dup) rs557936064
NM_033056.4(PCDH15):c.5296_5304del (p.Ala1766_Pro1768del) rs397517466
NM_033056.4(PCDH15):c.5308_5310del (p.Asp1770del) rs1554820073
NM_033056.4(PCDH15):c.5317_5319del (p.Pro1773del) rs1415161284
NM_033056.4(PCDH15):c.5332dup (p.Cys1778fs) rs1338600699
NM_033056.4(PCDH15):c.5336del (p.Pro1779fs) rs1554820022
NM_033056.4(PCDH15):c.5343del (p.Ser1782fs) rs1554820009
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033056.4(PCDH15):c.5349_5359del (p.Pro1784fs) rs1554819982
NM_033056.4(PCDH15):c.5355_5365del (p.Ile1786fs) rs1554819970
NM_033056.4(PCDH15):c.5357dup (p.Leu1788fs) rs1376879405
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390
NM_033056.4(PCDH15):c.5361_5376del (p.Pro1789fs) rs1554819957
NM_033056.4(PCDH15):c.5363_5368TTCCTC[3] (p.1788_1789LP[3]) rs779691085
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs) rs753690225
NM_033056.4(PCDH15):c.5388dup (p.Pro1797fs) rs1554819925
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463
NM_033056.4(PCDH15):c.5430_5438del (p.Leu1811_Pro1813del) rs1554819833
NM_033056.4(PCDH15):c.5445_5456del (p.Thr1816_Pro1819del) rs764759018
NM_033056.4(PCDH15):c.5463_5489del (p.Pro1823_Pro1831del) rs1554819787
NM_033056.4(PCDH15):c.5472_5495del (p.Ile1825_Ser1832del) rs763534924
NM_033056.4(PCDH15):c.5511_5512CA[1] (p.Thr1838fs) rs1554819767
NM_033056.4(PCDH15):c.5520dup (p.Val1841fs) rs1554819761
NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=) rs111033445
NM_033056.4(PCDH15):c.5566G>T (p.Glu1856Ter) rs371269732
NM_033056.4(PCDH15):c.5600_5603delinsT (p.Thr1867_Thr1868delinsMet) rs1554819686
NM_033056.4(PCDH15):c.5617dup (p.Thr1873fs) rs1554819653
NM_033056.4(PCDH15):c.5619_5623dup (p.Pro1875fs) rs1418472770
NM_033056.4(PCDH15):c.5626C>T (p.Gln1876Ter) rs750274894
NM_033056.4(PCDH15):c.5628_5629GA[2] (p.Glu1878fs) rs794727570
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs) rs1287068204
NM_033056.4(PCDH15):c.5684C>G (p.Ser1895Ter) rs1554819599
NM_033056.4(PCDH15):c.5702_5705dup (p.Ile1903fs) rs1554819570
NM_033056.4(PCDH15):c.5710_5711del (p.Glu1904fs) rs1554819558
NM_033056.4(PCDH15):c.5713A>T (p.Lys1905Ter) rs780553426
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs) rs568470164
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His) rs145851144
NM_033056.4(PCDH15):c.5743_5766del (p.Leu1915_Glu1922del) rs1554819513
NM_033056.4(PCDH15):c.5753del (p.Met1918fs) rs1554819525
NM_033056.4(PCDH15):c.5798_5816dup (p.Asn1939fs) rs755876430
NM_033056.4(PCDH15):c.5806_5807del (p.Ser1936fs) rs1554819488
NM_033056.4(PCDH15):c.5806del (p.Ser1936fs) rs1554819493
NM_033056.4(PCDH15):c.5818_5820dup (p.Ile1940dup) rs750168790
NM_033056.4(PCDH15):c.5838_5841del (p.Lys1946fs) rs1368908688
NM_033056.4(PCDH15):c.5849_5852dup (p.Thr1953fs) rs757543551
NM_033056.4(PCDH15):c.5863del (p.Leu1955fs) rs1554819436
NM_033056.4(PCDH15):c.594+1G>T rs1057516470
NM_033056.4(PCDH15):c.647T>G (p.Leu216Ter) rs1554903979
NM_033056.4(PCDH15):c.705+1G>A rs1554903842
NM_033056.4(PCDH15):c.705+2_705+3insTT rs1554903836
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_033056.4(PCDH15):c.7C>T (p.Arg3Ter) rs137853001
NM_033056.4(PCDH15):c.803G>A (p.Cys268Tyr) rs1283739647
NM_033056.4(PCDH15):c.84T>A (p.Tyr28Ter) rs903145299
NM_033056.4(PCDH15):c.875C>G (p.Pro292Arg) rs138744579
NM_033056.4(PCDH15):c.901dup (p.Thr301fs) rs1057517048
PCDH15, 3-BP DEL, 5601AAC
PCDH15, IVS27, A-G, -2

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.