ClinVar Miner

List of variants in gene PCDH15 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 238
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HGVS dbSNP gnomAD frequency
NM_001384140.1(PCDH15):c.319-251G>T rs1342308 0.95288
NM_001384140.1(PCDH15):c.986-259A>T rs2384421 0.90532
NM_001384140.1(PCDH15):c.2091+141T>C rs1911433 0.81633
NM_001384140.1(PCDH15):c.2869-109T>C rs2456699 0.77156
NM_001384140.1(PCDH15):c.877-70G>A rs721825 0.76194
NM_001384140.1(PCDH15):c.985+175T>A rs7915391 0.76159
NM_001384140.1(PCDH15):c.3123-238A>G rs2384340 0.75849
NM_001384140.1(PCDH15):c.3374-72A>G rs2593124 0.75471
NM_001384140.1(PCDH15):c.705+93C>T rs857395 0.74876
NM_001384140.1(PCDH15):c.3374-68T>G rs10740559 0.74015
NM_001384140.1(PCDH15):c.705+225T>C rs857394 0.73979
NM_001384140.1(PCDH15):c.595-252G>A rs857396 0.73958
NM_001384140.1(PCDH15):c.706-8C>T rs10740579 0.71606
NM_001384140.1(PCDH15):c.876+271A>G rs1342281 0.71587
NM_001384140.1(PCDH15):c.3010-342T>C rs2446611 0.71350
NM_001384140.1(PCDH15):c.3010-343T>C rs2446610 0.71350
NM_001384140.1(PCDH15):c.986-81C>T rs10763086 0.71010
NM_001384140.1(PCDH15):c.3010-48G>A rs2593107 0.70086
NM_001384140.1(PCDH15):c.705+190G>A rs11004239 0.68440
NM_001384140.1(PCDH15):c.705+133T>C rs11004240 0.68437
NM_001384140.1(PCDH15):c.2869-193dup rs5785030 0.68350
NM_001384140.1(PCDH15):c.3123-244A>C rs2384341 0.67667
NM_001384140.1(PCDH15):c.705+288C>G rs1159865 0.67639
NM_001384140.1(PCDH15):c.1784+179G>A rs12764713 0.63133
NM_001384140.1(PCDH15):c.3718-154A>G rs7083307 0.62854
NM_001384140.1(PCDH15):c.2751+37C>T rs3812658 0.59606
NM_001384140.1(PCDH15):c.2751+192G>T rs2891497 0.59577
NM_001384140.1(PCDH15):c.3123-333A>G rs10825169 0.57672
NM_001384140.1(PCDH15):c.4211+188C>T rs4570494 0.57542
NM_001384140.1(PCDH15):c.1098+107G>A rs10825279 0.52858
NM_001384140.1(PCDH15):c.876+56T>G rs10763098 0.45789
NM_001384140.1(PCDH15):c.876+412G>C rs1418367 0.44516
NM_001384140.1(PCDH15):c.4367+119T>C rs10740555 0.43920
NM_001384140.1(PCDH15):c.1306-4362C>A rs1561675 0.42761
NM_001384140.1(PCDH15):c.2221-189T>A rs4146645 0.41884
NM_001384140.1(PCDH15):c.4203-151C>A rs4935096 0.38898
NM_001384140.1(PCDH15):c.4203-162T>C rs4935472 0.38838
NM_001384140.1(PCDH15):c.4671+749A>C rs61862360 0.38768
NM_001384140.1(PCDH15):c.4202+225C>T rs10825117 0.37456
NM_001384140.1(PCDH15):c.3984-20C>T rs7089209 0.37411
NM_001384140.1(PCDH15):c.4202+125G>A rs77597438 0.37134
NM_001384140.1(PCDH15):c.3717+35T>C rs10825135 0.35243
NM_001384140.1(PCDH15):c.1591-214A>C rs7093558 0.32784
NM_001384140.1(PCDH15):c.1917+233G>A rs7914232 0.32572
NM_001384140.1(PCDH15):c.594+232A>G rs2153822 0.26148
NM_001384140.1(PCDH15):c.876+361A>C rs11004225 0.25744
NM_001384140.1(PCDH15):c.3983+232C>T rs4519000 0.24030
NM_001384140.1(PCDH15):c.1305+268A>C rs7893350 0.23822
NM_001384140.1(PCDH15):c.1263T>C (p.Thr421=) rs7921598 0.23801
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269 0.22813
NM_001384140.1(PCDH15):c.2868+172G>A rs2135721 0.22501
NM_001384140.1(PCDH15):c.2786G>A (p.Arg929Gln) rs2135720 0.22399
NM_001384140.1(PCDH15):c.2220+47T>C rs3812657 0.22115
NM_001384140.1(PCDH15):c.2092-168C>T rs11004028 0.22062
NM_001384140.1(PCDH15):c.2092-148T>A rs11004027 0.22043
NM_001384140.1(PCDH15):c.55T>G (p.Ser19Ala) rs11004439 0.20535
NM_001384140.1(PCDH15):c.1997+244C>T rs72797022 0.20344
NM_001384140.1(PCDH15):c.319-31T>C rs11594958 0.20278
NM_001384140.1(PCDH15):c.5156A>C (p.Gln1719Pro) rs17704703 0.20017
NM_001384140.1(PCDH15):c.1997+132T>G rs72797023 0.19541
NM_001384140.1(PCDH15):c.1918-165C>T rs10509004 0.19473
NM_001384140.1(PCDH15):c.1306-4123C>T rs16905686 0.17435
NM_001384140.1(PCDH15):c.4671+1344A>C rs11003863 0.17427
NM_001384140.1(PCDH15):c.2751+43C>G rs2660169 0.16984
NM_001384140.1(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502 0.15952
NM_001384140.1(PCDH15):c.1590+317T>G rs10082370 0.15950
NM_001384140.1(PCDH15):c.1590+314G>A rs10082529 0.15937
NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=) rs10825114 0.12444
NM_001384140.1(PCDH15):c.475-299G>A rs1342276 0.12313
NM_001384140.1(PCDH15):c.2751+184C>T rs3812660 0.12015
NM_001384140.1(PCDH15):c.595-101G>A rs7342012 0.11116
NM_001384140.1(PCDH15):c.1997+169A>G rs73237645 0.10290
NM_001384140.1(PCDH15):c.1441-320G>T rs10082532 0.09253
NM_001384140.1(PCDH15):c.1306-203T>C rs16905671 0.08954
NM_001384140.1(PCDH15):c.3374-134G>A rs16937823 0.08065
NM_001384140.1(PCDH15):c.1784+168A>G rs60131819 0.07406
NM_001384140.1(PCDH15):c.2752-75C>G rs2253647 0.07354
NM_001384140.1(PCDH15):c.1591-68G>A rs41274632 0.07262
NM_001384140.1(PCDH15):c.475-343G>A rs16905987 0.07207
NM_001384140.1(PCDH15):c.3373+213G>A rs724434 0.07163
NM_001384140.1(PCDH15):c.2091+229C>T rs55950301 0.07095
NM_001384140.1(PCDH15):c.91+289G>A rs55688625 0.06320
NM_001384140.1(PCDH15):c.877-94C>T rs12265855 0.05867
NM_001384140.1(PCDH15):c.985+227A>G rs12260476 0.05859
NM_001384140.1(PCDH15):c.1099-282G>T rs112175353 0.05640
NM_001384140.1(PCDH15):c.2868+69G>A rs11003980 0.05390
NM_001384140.1(PCDH15):c.706-31A>G rs11004227 0.05111
NM_001384140.1(PCDH15):c.706-112A>C rs12242256 0.05108
NM_001384140.1(PCDH15):c.876+134G>A rs11004226 0.05103
NM_001384140.1(PCDH15):c.3806+90del rs113963266 0.05047
NM_001384140.1(PCDH15):c.4203-146G>A rs12412822 0.04232
NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val) rs79854148 0.03803
NM_001384140.1(PCDH15):c.4672-1439G>A rs74615652 0.03478
NM_001384140.1(PCDH15):c.1306-3777A>G rs73244894 0.02959
NM_001384140.1(PCDH15):c.1910A>G (p.Asn637Ser) rs61731389 0.02908
NM_001384140.1(PCDH15):c.2527-177C>G rs2610856 0.02795
NM_001384140.1(PCDH15):c.877-317G>C rs61543176 0.02432
NM_001384140.1(PCDH15):c.960A>G (p.Pro320=) rs41274634 0.02389
NM_001384140.1(PCDH15):c.4368-3396C>G rs78464677 0.02284
NM_001384140.1(PCDH15):c.3984-82A>G rs77806268 0.02263
NM_001384140.1(PCDH15):c.4367+2552T>A rs74134799 0.02249
NM_001384140.1(PCDH15):c.4212-92del rs111703509 0.02242
NM_001384140.1(PCDH15):c.474+183A>G rs112879090 0.02201
NM_001384140.1(PCDH15):c.3718-19C>A rs75248212 0.02141
NM_001384140.1(PCDH15):c.3374-4C>T rs111739360 0.02123
NM_001384140.1(PCDH15):c.3501+207G>A rs185084457 0.02122
NM_001384140.1(PCDH15):c.3501+209A>T rs182104063 0.02119
NM_001384140.1(PCDH15):c.877-64G>A rs12251663 0.02108
NM_001384140.1(PCDH15):c.5124G>A (p.Lys1708=) rs74609306 0.02014
NM_001384140.1(PCDH15):c.1784+128C>T rs73245420 0.01683
NM_001384140.1(PCDH15):c.3009+294C>T rs11003947 0.01641
NM_001384140.1(PCDH15):c.3009+289A>G rs11003948 0.01639
NM_001384140.1(PCDH15):c.3122+186G>A rs112940526 0.01605
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390 0.01583
NM_001384140.1(PCDH15):c.3795A>T (p.Glu1265Asp) rs111033496 0.01533
NM_001384140.1(PCDH15):c.546A>G (p.Gly182=) rs34164469 0.01517
NM_001384140.1(PCDH15):c.3123-182T>C rs76050914 0.01499
NM_001384140.1(PCDH15):c.1917+98C>A rs80313657 0.01487
NM_001384140.1(PCDH15):c.4671+1114A>C rs16937769 0.01163
NM_001384140.1(PCDH15):c.1360G>A (p.Val454Ile) rs61735473 0.00870
NM_001384140.1(PCDH15):c.3532G>A (p.Val1178Ile) rs147835286 0.00845
NM_001384140.1(PCDH15):c.475-3C>T rs41304641 0.00837
NM_001384140.1(PCDH15):c.4672-1637G>A rs139441645 0.00746
NM_001384140.1(PCDH15):c.4640G>A (p.Gly1547Asp) rs41274622 0.00741
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387 0.00699
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362 0.00631
NM_001384140.1(PCDH15):c.1702G>A (p.Ala568Thr) rs61730754 0.00615
NM_001384140.1(PCDH15):c.-5A>G rs142016527 0.00570
NM_001384140.1(PCDH15):c.4671+1053A>C rs149208928 0.00562
NM_033056.4(PCDH15):c.4884T>C (p.Thr1628=) rs16937781 0.00558
NM_033056.4(PCDH15):c.5550C>A (p.Thr1850=) rs112097891 0.00486
NM_001384140.1(PCDH15):c.3983+12T>C rs149867749 0.00483
NM_001384140.1(PCDH15):c.4671+1438A>C rs16937768 0.00449
NM_001384140.1(PCDH15):c.3502-19T>C rs199978794 0.00440
NM_001384140.1(PCDH15):c.4671+1087C>T rs12359240 0.00438
NM_001384140.1(PCDH15):c.1590+15A>G rs565203752 0.00428
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346 0.00423
NM_001384140.1(PCDH15):c.3502-8C>T rs184144118 0.00411
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=) rs111033516 0.00401
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363 0.00325
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe) rs111033436 0.00318
NM_001384140.1(PCDH15):c.3717+8G>C rs200556301 0.00305
NM_001384140.1(PCDH15):c.4860G>A (p.Thr1620=) rs148772706 0.00278
NM_001384140.1(PCDH15):c.1362C>T (p.Val454=) rs61735479 0.00267
NM_001384140.1(PCDH15):c.4672-1640A>G rs145178582 0.00232
NM_001384140.1(PCDH15):c.4672-1699G>A rs7090408 0.00227
NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=) rs58461416 0.00220
NM_001384140.1(PCDH15):c.4671+16T>G rs76528829 0.00210
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 0.00168
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=) rs41307518 0.00149
NM_001384140.1(PCDH15):c.1653G>A (p.Gly551=) rs141281651 0.00073
NM_001384140.1(PCDH15):c.243G>A (p.Val81=) rs151119732 0.00073
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874 0.00066
NM_001384140.1(PCDH15):c.3877C>A (p.Arg1293=) rs142034111 0.00064
NM_001384140.1(PCDH15):c.4334C>G (p.Ala1445Gly) rs146745502 0.00061
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463 0.00056
NM_001384140.1(PCDH15):c.2513T>C (p.Ile838Thr) rs201657445 0.00046
NM_001384140.1(PCDH15):c.942A>G (p.Gln314=) rs149481989 0.00043
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080 0.00039
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475 0.00039
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu) rs145903555 0.00020
NM_001384140.1(PCDH15):c.3450C>A (p.Ile1150=) rs146374856 0.00016
NM_001384140.1(PCDH15):c.2751+9T>C rs180804907 0.00009
NM_001384140.1(PCDH15):c.3753T>C (p.Ile1251=) rs139873638 0.00006
NM_001384140.1(PCDH15):c.1141C>G (p.Leu381Val) rs373453298 0.00004
NM_001384140.1(PCDH15):c.2445C>T (p.Asn815=) rs768200772 0.00001
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=) rs529962978 0.00001
GRCh37/hg19 10q21.1(chr10:55559110-55582905)x1
GRCh37/hg19 10q21.1(chr10:55943184-55991753)x3
GRCh37/hg19 10q21.1(chr10:56047470-56170113)x3
GRCh37/hg19 10q21.1(chr10:56233117-56288866)x3
GRCh37/hg19 10q21.1(chr10:56286068-56288866)x1
GRCh37/hg19 10q21.1(chr10:56423968-56469288)x3
GRCh37/hg19 10q21.1(chr10:56441012-56467563)x3
GRCh37/hg19 10q21.1(chr10:56452411-56480111)x3
GRCh37/hg19 10q21.1(chr10:56523671-56573906)x3
NM_001384140.1(PCDH15):c.*144GA[4] rs149757971
NM_001384140.1(PCDH15):c.1099-10dup
NM_001384140.1(PCDH15):c.1099-20del
NM_001384140.1(PCDH15):c.1134T>G (p.Phe378Leu)
NM_001384140.1(PCDH15):c.1147A>G (p.Ile383Val)
NM_001384140.1(PCDH15):c.1306-4237del rs5785045
NM_001384140.1(PCDH15):c.1306-6del
NM_001384140.1(PCDH15):c.1306-6dup rs750120473
NM_001384140.1(PCDH15):c.1590+17_1590+21del rs202125339
NM_001384140.1(PCDH15):c.1590+20A>G rs7093302
NM_001384140.1(PCDH15):c.1590+239T>C rs10082374
NM_001384140.1(PCDH15):c.1591-10dup rs2044743282
NM_001384140.1(PCDH15):c.1917+13GT[10] rs5785040
NM_001384140.1(PCDH15):c.1917+13GT[13] rs5785040
NM_001384140.1(PCDH15):c.1917+13GT[14] rs5785040
NM_001384140.1(PCDH15):c.1917+246A>C rs4272709
NM_001384140.1(PCDH15):c.1997+12del
NM_001384140.1(PCDH15):c.2092-8del
NM_001384140.1(PCDH15):c.2221-15dup rs748865551
NM_001384140.1(PCDH15):c.2221-34G>A rs57385317
NM_001384140.1(PCDH15):c.2527-260CT[9] rs57852524
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_001384140.1(PCDH15):c.3010-14del
NM_001384140.1(PCDH15):c.318+16del
NM_001384140.1(PCDH15):c.3501+230G>C rs77889682
NM_001384140.1(PCDH15):c.3502-133C>T rs7904289
NM_001384140.1(PCDH15):c.3502-14del rs5785023
NM_001384140.1(PCDH15):c.3502-14dup rs5785023
NM_001384140.1(PCDH15):c.3502-15_3502-14del
NM_001384140.1(PCDH15):c.3502-22_3502-21dup rs5785023
NM_001384140.1(PCDH15):c.3717+174AT[10] rs55793083
NM_001384140.1(PCDH15):c.3717+174AT[12] rs55793083
NM_001384140.1(PCDH15):c.3717+174AT[13] rs55793083
NM_001384140.1(PCDH15):c.3718-31A>G rs80143445
NM_001384140.1(PCDH15):c.3983+13dup rs746916667
NM_001384140.1(PCDH15):c.3983+140_3983+141insAAC rs10671958
NM_001384140.1(PCDH15):c.3984-170_3984-168del rs10564877
NM_001384140.1(PCDH15):c.4202+129_4202+132del rs59637951
NM_001384140.1(PCDH15):c.4211+318T>C rs79302491
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4367+1986del rs11331854
NM_001384140.1(PCDH15):c.4367+2122del rs11331853
NM_001384140.1(PCDH15):c.4492-1191G>A rs869312036
NM_001384140.1(PCDH15):c.4651GAA[1] (p.Glu1552del) rs561144747
NM_001384140.1(PCDH15):c.4671+1344_4671+1345delinsCC rs1554815737
NM_001384140.1(PCDH15):c.4671+747G>T rs10763008
NM_001384140.1(PCDH15):c.4671+753T>A rs10763007
NM_001384140.1(PCDH15):c.4728_4730dup (p.Thr1577dup) rs143978284
NM_001384140.1(PCDH15):c.475-14dup rs1157582942
NM_001384140.1(PCDH15):c.475-18A>T
NM_001384140.1(PCDH15):c.475-9del rs1157582942
NM_001384140.1(PCDH15):c.47T>C (p.Ile16Thr)
NM_001384140.1(PCDH15):c.55T>A (p.Ser19Thr)
NM_001384140.1(PCDH15):c.706-266T>C rs12240859
NM_001384140.1(PCDH15):c.877-5_877-4del rs200395027
NM_001384140.1(PCDH15):c.986-208_986-205del rs35744658
NM_033056.3(PCDH15):c.1917+33_1917+34dup rs5785040
NM_033056.3(PCDH15):c.4368-13_4368-10dup rs530804327
NM_033056.3:c.+15180G>A
NM_033056.3:c.+15212A>C
NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs) rs545191822
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047

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