ClinVar Miner

List of variants in gene PCDH15 reported as uncertain significance for not specified

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Gene type:
ClinVar version:
Total variants: 89
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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.54378931C>T
NM_001142769.3(PCDH15):c.4410-921A>G rs115559383
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+1164_4497+1167del rs483353074
NM_001142771.2(PCDH15):c.4497+1223C>T rs566386133
NM_001142771.2(PCDH15):c.4497+1355A>G rs372184022
NM_001142771.2(PCDH15):c.4497+1418T>C rs730880021
NM_001142771.2(PCDH15):c.4497+1449_4497+1457dup rs752753497
NM_001142771.2(PCDH15):c.4497+1595GAA[3] rs730880019
NM_001142771.2(PCDH15):c.4498-1607delinsAGT rs730880020
NM_001142771.2(PCDH15):c.4498-1657del rs876657949
NM_001142771.2(PCDH15):c.4627G>A (p.Gly1543Ser) rs181306086
NM_001142771.2(PCDH15):c.4931_4934dup (p.Ser1646_Lys1647insTer) rs770322907
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.1141C>G (p.Leu381Val) rs373453298
NM_033056.4(PCDH15):c.1169A>G (p.Asn390Ser) rs397517450
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.1339G>A (p.Asp447Asn) rs150509146
NM_033056.4(PCDH15):c.1537T>C (p.Ser513Pro) rs876657951
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.1985A>G (p.Asn662Ser) rs373731707
NM_033056.4(PCDH15):c.2051A>G (p.Tyr684Cys) rs372076259
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.2396G>A (p.Arg799His) rs199824864
NM_033056.4(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445
NM_033056.4(PCDH15):c.2439T>A (p.Asp813Glu) rs397517453
NM_033056.4(PCDH15):c.2581G>A (p.Val861Met) rs142512524
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.2728G>T (p.Ala910Ser) rs139175351
NM_033056.4(PCDH15):c.2751+2T>C rs754543131
NM_033056.4(PCDH15):c.2823G>T (p.Lys941Asn) rs773599066
NM_033056.4(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_033056.4(PCDH15):c.2936T>C (p.Phe979Ser) rs150891423
NM_033056.4(PCDH15):c.2992C>G (p.Pro998Ala) rs397517454
NM_033056.4(PCDH15):c.3122+3A>G rs373365331
NM_033056.4(PCDH15):c.3131C>T (p.Pro1044Leu) rs397517455
NM_033056.4(PCDH15):c.3373+3A>G rs397517456
NM_033056.4(PCDH15):c.3521G>A (p.Gly1174Asp) rs150387187
NM_033056.4(PCDH15):c.3667A>T (p.Ile1223Phe) rs752490775
NM_033056.4(PCDH15):c.3719T>A (p.Val1240Asp) rs397517458
NM_033056.4(PCDH15):c.3807-6T>G rs727504791
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.4343A>G (p.Tyr1448Cys) rs397517459
NM_033056.4(PCDH15):c.4368-3A>C rs1564540949
NM_033056.4(PCDH15):c.4368T>A (p.Ile1456=) rs140748627
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.4681_4684dup (p.Ser1562Ter) rs730880357
NM_033056.4(PCDH15):c.470A>G (p.Asn157Ser) rs727503368
NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs) rs545191822
NM_033056.4(PCDH15):c.4925G>A (p.Gly1642Asp) rs745335831
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.5269_5280del (p.Ser1757_Pro1760del) rs397517463
NM_033056.4(PCDH15):c.5278C>A (p.Pro1760Thr) rs397517464
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.5422C>A (p.Pro1808Thr) rs727505235
NM_033056.4(PCDH15):c.5543G>T (p.Cys1848Phe) rs752231055
NM_033056.4(PCDH15):c.5614A>G (p.Lys1872Glu) rs147727092
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.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.947C>T (p.Pro316Leu) rs397517469
NM_033056.4(PCDH15):c.949T>A (p.Ser317Thr) rs140736502
NM_033056.4(PCDH15):c.974C>T (p.Ser325Phe) rs145011716

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