ClinVar Miner

List of variants in gene PCDH15 studied for Nonsyndromic Hearing Loss, Recessive

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Total variants: 95
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HGVS dbSNP
NM_033056.3(PCDH15):c.3502-10delC rs750835578
NM_033056.3(PCDH15):c.706-17_706-14delGTTT rs886047068
NM_033056.4(PCDH15):c.*127dup rs548021914
NM_033056.4(PCDH15):c.*135T>C rs886047058
NM_033056.4(PCDH15):c.*147_*150dup rs886047057
NM_033056.4(PCDH15):c.*268_*269del rs886047056
NM_033056.4(PCDH15):c.*366G>A rs187860910
NM_033056.4(PCDH15):c.*389G>A rs886047055
NM_033056.4(PCDH15):c.*414G>C rs16937780
NM_033056.4(PCDH15):c.*421C>T rs74134797
NM_033056.4(PCDH15):c.*486G>A rs549184328
NM_033056.4(PCDH15):c.*512G>C rs571779869
NM_033056.4(PCDH15):c.*558T>A rs886047054
NM_033056.4(PCDH15):c.*64A>T rs188426462
NM_033056.4(PCDH15):c.-126G>A rs551107079
NM_033056.4(PCDH15):c.-155G>C rs886047069
NM_033056.4(PCDH15):c.-180C>T rs375866561
NM_033056.4(PCDH15):c.-288T>C rs566733932
NM_033056.4(PCDH15):c.1098+14A>G rs764625426
NM_033056.4(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269
NM_033056.4(PCDH15):c.1172A>G (p.Gln391Arg) rs758680936
NM_033056.4(PCDH15):c.1220C>T (p.Ser407Phe) rs886047067
NM_033056.4(PCDH15):c.1263T>C (p.Thr421=) rs7921598
NM_033056.4(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502
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.1590+15A>G rs565203752
NM_033056.4(PCDH15):c.1631T>G (p.Ile544Ser) rs886047066
NM_033056.4(PCDH15):c.1649T>G (p.Val550Gly) rs61735482
NM_033056.4(PCDH15):c.1900G>A (p.Val634Ile) rs146199636
NM_033056.4(PCDH15):c.1910A>G (p.Asn637Ser) rs61731389
NM_033056.4(PCDH15):c.1934G>T (p.Gly645Val) rs763226433
NM_033056.4(PCDH15):c.2138A>G (p.Asn713Ser) rs190878515
NM_033056.4(PCDH15):c.2220+9A>G rs886047065
NM_033056.4(PCDH15):c.243G>A (p.Val81=) rs151119732
NM_033056.4(PCDH15):c.2539G>A (p.Asp847Asn) rs751941551
NM_033056.4(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738
NM_033056.4(PCDH15):c.2581G>A (p.Val861Met) rs142512524
NM_033056.4(PCDH15):c.2625G>A (p.Ser875=) rs111033516
NM_033056.4(PCDH15):c.2709A>G (p.Gly903=) rs886047064
NM_033056.4(PCDH15):c.2768C>T (p.Pro923Leu) rs191577774
NM_033056.4(PCDH15):c.2786G>A (p.Arg929Gln) rs2135720
NM_033056.4(PCDH15):c.2807C>T (p.Ala936Val) rs369029215
NM_033056.4(PCDH15):c.2823G>T (p.Lys941Asn) rs773599066
NM_033056.4(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080
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.3018G>T (p.Val1006=) rs41307518
NM_033056.4(PCDH15):c.3195A>G (p.Gln1065=) rs776720353
NM_033056.4(PCDH15):c.3450C>A (p.Ile1150=) rs146374856
NM_033056.4(PCDH15):c.3501+7G>T rs756402556
NM_033056.4(PCDH15):c.3502-8C>T rs184144118
NM_033056.4(PCDH15):c.3782A>C (p.Glu1261Ala) rs201106387
NM_033056.4(PCDH15):c.3795A>T (p.Glu1265Asp) rs111033496
NM_033056.4(PCDH15):c.3983+12T>C rs149867749
NM_033056.4(PCDH15):c.4080G>A (p.Val1360=) rs111033499
NM_033056.4(PCDH15):c.4202+5G>A rs886047063
NM_033056.4(PCDH15):c.4272A>G (p.Pro1424=) rs759109238
NM_033056.4(PCDH15):c.4334C>G (p.Ala1445Gly) rs146745502
NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=) rs10825114
NM_033056.4(PCDH15):c.466G>A (p.Val156Met) rs534173969
NM_033056.4(PCDH15):c.466G>C (p.Val156Leu) rs534173969
NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=) rs767811568
NM_033056.4(PCDH15):c.475-3C>T rs41304641
NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu) rs397517461
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362
NM_033056.4(PCDH15):c.4892C>A (p.Ala1631Glu) rs56332160
NM_033056.4(PCDH15):c.4993C>A (p.Pro1665Thr) rs886047062
NM_033056.4(PCDH15):c.5177C>T (p.Thr1726Ile) rs772619593
NM_033056.4(PCDH15):c.5245_5247CCT[3] (p.Pro1752del) rs397517462
NM_033056.4(PCDH15):c.5281_5286GCTCCT[1] (p.1761_1762AP[1]) rs397517465
NM_033056.4(PCDH15):c.5283T>A (p.Ala1761=) rs375134176
NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=) rs58461416
NM_033056.4(PCDH15):c.5313T>G (p.Ile1771Met) rs886047061
NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg) rs745583797
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro) rs144261647
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390
NM_033056.4(PCDH15):c.5450C>T (p.Pro1817Leu) rs759208006
NM_033056.4(PCDH15):c.546A>G (p.Gly182=) rs34164469
NM_033056.4(PCDH15):c.5480G>T (p.Cys1827Phe) rs776844300
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445
NM_033056.4(PCDH15):c.5566G>A (p.Glu1856Lys) rs371269732
NM_033056.4(PCDH15):c.55T>G (p.Ser19Ala) rs11004439
NM_033056.4(PCDH15):c.5653C>T (p.His1885Tyr) rs886047060
NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val) rs79854148
NM_033056.4(PCDH15):c.5726G>T (p.Arg1909Leu) rs145851144
NM_033056.4(PCDH15):c.575A>G (p.Gln192Arg) rs201496062
NM_033056.4(PCDH15):c.5864T>C (p.Leu1955Pro) rs751586980
NM_033056.4(PCDH15):c.593C>T (p.Pro198Leu) rs145232643
NM_033056.4(PCDH15):c.594G>A (p.Pro198=) rs368308772
NM_033056.4(PCDH15):c.665A>G (p.Tyr222Cys) rs755845400
NM_033056.4(PCDH15):c.706-8C>T rs10740579
NM_033056.4(PCDH15):c.851C>T (p.Ala284Val) rs777071595
NM_033056.4(PCDH15):c.960A>G (p.Pro320=) rs41274634

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