ClinVar Miner

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

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Gene type:
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Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_001384140.1(PCDH15):c.4801G>A (p.Gly1601Ser) rs181306086 0.00140
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr) rs140736502 0.00085
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164 0.00081
NM_001384140.1(PCDH15):c.4526A>G (p.Gln1509Arg) rs115559383 0.00065
NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met) rs142512524 0.00051
NM_001384140.1(PCDH15):c.4671+1046A>G rs201855435 0.00049
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys) rs192813057 0.00039
NM_001384140.1(PCDH15):c.1339G>A (p.Asp447Asn) rs150509146 0.00036
NM_001384140.1(PCDH15):c.2728G>T (p.Ala910Ser) rs139175351 0.00026
NM_001384140.1(PCDH15):c.2194G>A (p.Ala732Thr) rs148162562 0.00024
NM_001384140.1(PCDH15):c.298G>A (p.Gly100Arg) rs140716525 0.00024
NM_001384140.1(PCDH15):c.593C>T (p.Pro198Leu) rs145232643 0.00024
NM_001384140.1(PCDH15):c.1606G>C (p.Ala536Pro) rs140516168 0.00019
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445 0.00018
NM_033056.4(PCDH15):c.5048T>G (p.Leu1683Arg) rs727504812 0.00016
NM_001384140.1(PCDH15):c.4671+1223C>T rs566386133 0.00015
NM_001384140.1(PCDH15):c.2102C>T (p.Ala701Val) rs199537178 0.00013
NM_033056.4(PCDH15):c.4892C>A (p.Ala1631Glu) rs56332160 0.00013
NM_001384140.1(PCDH15):c.4671+1355A>G rs372184022 0.00011
NM_001384140.1(PCDH15):c.2051A>G (p.Tyr684Cys) rs372076259 0.00010
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His) rs145851144 0.00010
NM_001384140.1(PCDH15):c.2823G>T (p.Lys941Asn) rs773599066 0.00009
NM_001384140.1(PCDH15):c.2396G>A (p.Arg799His) rs199824864 0.00006
NM_001384140.1(PCDH15):c.2992C>G (p.Pro998Ala) rs397517454 0.00006
NM_001384140.1(PCDH15):c.3807-6T>G rs727504791 0.00006
NM_001384140.1(PCDH15):c.4671+1616G>A rs371191414 0.00006
NM_001384140.1(PCDH15):c.575A>G (p.Gln192Arg) rs201496062 0.00006
NM_001384140.1(PCDH15):c.594G>A (p.Pro198=) rs368308772 0.00006
NM_001384140.1(PCDH15):c.709C>T (p.Arg237Cys) rs200798008 0.00006
NM_001384140.1(PCDH15):c.3131C>T (p.Pro1044Leu) rs397517455 0.00005
NM_001384140.1(PCDH15):c.734G>A (p.Arg245Gln) rs562377533 0.00005
NM_033056.4(PCDH15):c.4925G>A (p.Gly1642Asp) rs745335831 0.00005
NM_001384140.1(PCDH15):c.1141C>G (p.Leu381Val) rs373453298 0.00004
NM_001384140.1(PCDH15):c.2717C>T (p.Pro906Leu) rs374205826 0.00004
NM_001384140.1(PCDH15):c.2936T>C (p.Phe979Ser) rs150891423 0.00004
NM_001384140.1(PCDH15):c.3667A>T (p.Ile1223Phe) rs752490775 0.00004
NM_001384140.1(PCDH15):c.833G>A (p.Arg278His) rs369442293 0.00004
NM_001384140.1(PCDH15):c.944C>T (p.Pro315Leu) rs138299477 0.00004
NM_033056.4(PCDH15):c.4864del (p.Ser1622fs) rs1393195833 0.00004
NM_033056.4(PCDH15):c.5033C>T (p.Ser1678Leu) rs143438666 0.00004
NM_033056.4(PCDH15):c.5614A>G (p.Lys1872Glu) rs147727092 0.00004
NM_001384140.1(PCDH15):c.1985A>G (p.Asn662Ser) rs373731707 0.00003
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His) rs907693214 0.00003
NM_001384140.1(PCDH15):c.3521G>A (p.Gly1174Asp) rs150387187 0.00003
NM_001384140.1(PCDH15):c.466G>C (p.Val156Leu) rs534173969 0.00003
NM_001384140.1(PCDH15):c.470A>G (p.Asn157Ser) rs727503368 0.00003
NM_001384140.1(PCDH15):c.679C>T (p.Arg227Cys) rs565693539 0.00003
NM_001384140.1(PCDH15):c.809T>G (p.Leu270Arg) rs727503367 0.00003
NM_033056.4(PCDH15):c.4976A>G (p.Asp1659Gly) rs754402677 0.00003
NM_033056.4(PCDH15):c.5278C>A (p.Pro1760Thr) rs397517464 0.00003
NM_001384140.1(PCDH15):c.1169A>G (p.Asn390Ser) rs397517450 0.00002
NM_001384140.1(PCDH15):c.1591C>T (p.Leu531Phe) rs750009006 0.00002
NM_001384140.1(PCDH15):c.2751+2T>C rs754543131 0.00002
NM_001384140.1(PCDH15):c.4671+1559C>T rs368397508 0.00002
NM_001384140.1(PCDH15):c.607A>G (p.Thr203Ala) rs200975767 0.00002
NM_001384140.1(PCDH15):c.841A>G (p.Thr281Ala) rs773843633 0.00002
NM_033056.4(PCDH15):c.5642G>T (p.Gly1881Val) rs760992741 0.00002
NM_001384140.1(PCDH15):c.1121C>T (p.Pro374Leu) rs397517449 0.00001
NM_001384140.1(PCDH15):c.161C>T (p.Thr54Ile) rs727505253 0.00001
NM_001384140.1(PCDH15):c.2354A>G (p.Tyr785Cys) rs753912234 0.00001
NM_001384140.1(PCDH15):c.2439T>A (p.Asp813Glu) rs397517453 0.00001
NM_001384140.1(PCDH15):c.3122+3A>G rs373365331 0.00001
NM_001384140.1(PCDH15):c.3374-7C>T rs377480411 0.00001
NM_001384140.1(PCDH15):c.3719T>A (p.Val1240Asp) rs397517458 0.00001
NM_001384140.1(PCDH15):c.4249G>A (p.Ala1417Thr) rs1284117885 0.00001
NM_001384140.1(PCDH15):c.4671+1449_4671+1457dup rs752753497 0.00001
NM_001384140.1(PCDH15):c.4672-1689G>A rs185457086 0.00001
NM_033056.4(PCDH15):c.4846A>G (p.Thr1616Ala) rs751863041 0.00001
NM_033056.4(PCDH15):c.5372C>T (p.Pro1791Leu) rs1268531021 0.00001
NM_033056.4(PCDH15):c.5389C>T (p.Pro1797Ser) rs775203432 0.00001
NM_033056.4(PCDH15):c.5839C>T (p.Gln1947Ter) rs1457208099 0.00001
GRCh37/hg19 10q21.1(chr10:55199169-56857578)
NC_000010.10:g.(56138703_56287571)_(56287638_56423931)dup
NM_001384140.1(PCDH15):c.*14A>G rs876657950
NM_001384140.1(PCDH15):c.1045C>G (p.Leu349Val) rs1554841242
NM_001384140.1(PCDH15):c.1102G>A (p.Glu368Lys) rs1554833865
NM_001384140.1(PCDH15):c.1195A>G (p.Ser399Gly) rs199786639
NM_001384140.1(PCDH15):c.1537T>C (p.Ser513Pro) rs876657951
NM_001384140.1(PCDH15):c.169G>A (p.Val57Met) rs1589122156
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del) rs483352837
NM_001384140.1(PCDH15):c.2624C>T (p.Ser875Leu)
NM_001384140.1(PCDH15):c.2691G>C (p.Glu897Asp) rs876657952
NM_001384140.1(PCDH15):c.3373+3A>G rs397517456
NM_001384140.1(PCDH15):c.3579A>C (p.Glu1193Asp) rs1564640040
NM_001384140.1(PCDH15):c.4213C>G (p.Arg1405Gly) rs148046721
NM_001384140.1(PCDH15):c.4343A>C (p.Tyr1448Ser) rs397517459
NM_001384140.1(PCDH15):c.4343A>G (p.Tyr1448Cys) rs397517459
NM_001384140.1(PCDH15):c.4343_4344del (p.Leu1447_Tyr1448insTer) rs1588967380
NM_001384140.1(PCDH15):c.4368-3131A>C rs1564540949
NM_001384140.1(PCDH15):c.466G>A (p.Val156Met) rs534173969
NM_001384140.1(PCDH15):c.4671+1033dup rs1554815895
NM_001384140.1(PCDH15):c.4671+1164_4671+1167del rs483353074
NM_001384140.1(PCDH15):c.4671+1206G>T rs1588875434
NM_001384140.1(PCDH15):c.4671+1256del rs1404094905
NM_001384140.1(PCDH15):c.4671+1418T>C rs730880021
NM_001384140.1(PCDH15):c.4671+1595GAA[3] rs730880019
NM_001384140.1(PCDH15):c.4672-1607delinsAGT rs730880020
NM_001384140.1(PCDH15):c.4672-1657del rs876657949
NM_001384140.1(PCDH15):c.5105_5108dup (p.Asp1703_Ser1704insTer) rs770322907
NM_001384140.1(PCDH15):c.895A>G (p.Ile299Val)
NM_001384140.1(PCDH15):c.947C>T (p.Pro316Leu) rs397517469
NM_001384140.1(PCDH15):c.974C>T (p.Ser325Phe) rs145011716
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.4681_4684dup (p.Ser1562Ter) rs730880357
NM_033056.4(PCDH15):c.4768A>G (p.Asn1590Asp) rs2132504927
NM_033056.4(PCDH15):c.4777_4801dup (p.Gln1601fs)
NM_033056.4(PCDH15):c.4902del (p.Glu1635fs)
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs) rs1491209806
NM_033056.4(PCDH15):c.4982C>A (p.Ser1661Ter) rs1287970288
NM_033056.4(PCDH15):c.5100_5101dup (p.Ser1701fs) rs918473867
NM_033056.4(PCDH15):c.5253_5266del (p.Pro1752fs) rs2132494091
NM_033056.4(PCDH15):c.5269_5280del (p.Ser1757_Pro1760del) rs397517463
NM_033056.4(PCDH15):c.5338C>T (p.Pro1780Ser) rs751914445
NM_033056.4(PCDH15):c.5363TTCCTC[1] (p.1788LP[1]) rs779691085
NM_033056.4(PCDH15):c.5422C>A (p.Pro1808Thr) rs727505235
NM_033056.4(PCDH15):c.5818_5820dup (p.Ile1940dup) rs750168790

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