ClinVar Miner

List of variants in gene PCDH15 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 126
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HGVS dbSNP
GRCh38/hg38 10q21.1(chr10:54417212-54436627)x3
GRCh38/hg38 10q21.1(chr10:55172554-55427295)x1
NC_000010.11:g.53831183_53831186del
NC_000010.11:g.53831701_53831703del
NC_000010.11:g.53959892C>T
NC_000010.11:g.54020149G>C
NC_000010.11:g.54020155G>A
NC_000010.11:g.54214253_54214256del
NC_000010.11:g.54369306A>G
NM_001142769.3(PCDH15):c.4410-2146G>A rs869312036
NM_001142771.2(PCDH15):c.4497+1046A>G rs201855435
NM_001142771.2(PCDH15):c.4497+1109C>T rs145418788
NM_001142771.2(PCDH15):c.4497+1449_4497+1457dup rs752753497
NM_001142771.2(PCDH15):c.4627G>A (p.Gly1543Ser) rs181306086
NM_033056.3:c.+15180G>A
NM_033056.3:c.+15212A>C
NM_033056.4(PCDH15):c.-5A>G rs142016527
NM_033056.4(PCDH15):c.1098+107G>A
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.1427C>T (p.Thr476Ile) rs967946862
NM_033056.4(PCDH15):c.1590+239T>C
NM_033056.4(PCDH15):c.1591-214A>C
NM_033056.4(PCDH15):c.1591-68G>A
NM_033056.4(PCDH15):c.1702G>A (p.Ala568Thr) rs61730754
NM_033056.4(PCDH15):c.1784+179G>A
NM_033056.4(PCDH15):c.1910A>G (p.Asn637Ser) rs61731389
NM_033056.4(PCDH15):c.1917+233G>A
NM_033056.4(PCDH15):c.1917+98C>A
NM_033056.4(PCDH15):c.1997+1G>A rs763797356
NM_033056.4(PCDH15):c.19C>A (p.Leu7Ile) rs762092314
NM_033056.4(PCDH15):c.2091+141T>C
NM_033056.4(PCDH15):c.2192A>C (p.Glu731Ala) rs749438162
NM_033056.4(PCDH15):c.2208G>A (p.Val736=)
NM_033056.4(PCDH15):c.2221-189T>A
NM_033056.4(PCDH15):c.2400T>C (p.His800=)
NM_033056.4(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445
NM_033056.4(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738
NM_033056.4(PCDH15):c.2625G>A (p.Ser875=) rs111033516
NM_033056.4(PCDH15):c.2751+192G>T
NM_033056.4(PCDH15):c.2752-75C>G
NM_033056.4(PCDH15):c.2868+172G>A
NM_033056.4(PCDH15):c.2868+69G>A
NM_033056.4(PCDH15):c.2868+8G>T
NM_033056.4(PCDH15):c.2869-109T>C
NM_033056.4(PCDH15):c.2869-193dup
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.2897G>C (p.Arg966Thr) rs568865061
NM_033056.4(PCDH15):c.3010-342T>C
NM_033056.4(PCDH15):c.3010-343T>C
NM_033056.4(PCDH15):c.3018G>T (p.Val1006=) rs41307518
NM_033056.4(PCDH15):c.3123-238A>G
NM_033056.4(PCDH15):c.3123-244A>C
NM_033056.4(PCDH15):c.3123-333A>G
NM_033056.4(PCDH15):c.319-251G>T
NM_033056.4(PCDH15):c.3195A>G (p.Gln1065=) rs776720353
NM_033056.4(PCDH15):c.330C>T (p.Asn110=) rs146796009
NM_033056.4(PCDH15):c.3374-16G>A rs139684809
NM_033056.4(PCDH15):c.3374-4C>T rs111739360
NM_033056.4(PCDH15):c.3374-68T>G
NM_033056.4(PCDH15):c.3374-72A>G
NM_033056.4(PCDH15):c.343G>A (p.Val115Met) rs143570915
NM_033056.4(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475
NM_033056.4(PCDH15):c.3502-133C>T
NM_033056.4(PCDH15):c.3502-22dup rs5785023
NM_033056.4(PCDH15):c.3502-8C>T rs184144118
NM_033056.4(PCDH15):c.3532G>A (p.Val1178Ile) rs147835286
NM_033056.4(PCDH15):c.3717+35T>C
NM_033056.4(PCDH15):c.3717+8G>C rs200556301
NM_033056.4(PCDH15):c.3718-154A>G
NM_033056.4(PCDH15):c.3718-19C>A rs75248212
NM_033056.4(PCDH15):c.3795A>T (p.Glu1265Asp) rs111033496
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.3964G>C (p.Asp1322His) rs1411262816
NM_033056.4(PCDH15):c.3983+12T>C rs149867749
NM_033056.4(PCDH15):c.3984-1G>C rs1057520709
NM_033056.4(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387
NM_033056.4(PCDH15):c.4035T>A (p.Tyr1345Ter) rs1057520678
NM_033056.4(PCDH15):c.4080G>A (p.Val1360=) rs111033499
NM_033056.4(PCDH15):c.4202+225C>T
NM_033056.4(PCDH15):c.4203-151C>A
NM_033056.4(PCDH15):c.4203-162T>C
NM_033056.4(PCDH15):c.4211+188C>T
NM_033056.4(PCDH15):c.4314G>A (p.Pro1438=) rs535913178
NM_033056.4(PCDH15):c.4316C>T (p.Pro1439Leu) rs374714898
NM_033056.4(PCDH15):c.4317G>A (p.Pro1439=) rs370470900
NM_033056.4(PCDH15):c.4367+119T>C
NM_033056.4(PCDH15):c.4367+88A>G
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs) rs774056663
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.4884T>C (p.Thr1628=) rs16937781
NM_033056.4(PCDH15):c.5245_5247CCT[3] (p.Pro1752del) rs397517462
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.5286T>A (p.Pro1762=) rs58461416
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390
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.5435C>T (p.Pro1812Leu) rs139668636
NM_033056.4(PCDH15):c.546A>G (p.Gly182=) rs34164469
NM_033056.4(PCDH15):c.5550C>A (p.Thr1850=) rs112097891
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.5603C>T (p.Thr1868Met) rs191736346
NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val) rs79854148
NM_033056.4(PCDH15):c.595-101G>A
NM_033056.4(PCDH15):c.595-252G>A
NM_033056.4(PCDH15):c.705+133T>C
NM_033056.4(PCDH15):c.705+190G>A
NM_033056.4(PCDH15):c.705+225T>C
NM_033056.4(PCDH15):c.705+288C>G
NM_033056.4(PCDH15):c.706-21G>T
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_033056.4(PCDH15):c.876+271A>G
NM_033056.4(PCDH15):c.877-70G>A
NM_033056.4(PCDH15):c.877-94C>T
NM_033056.4(PCDH15):c.91+289G>A
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.985+175T>A
NM_033056.4(PCDH15):c.986-259A>T
NM_033056.4(PCDH15):c.986-81C>T

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