ClinVar Miner

List of variants in gene PCDH15 reported as uncertain significance for Usher syndrome type 1

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Total variants: 109
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HGVS dbSNP gnomAD frequency
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.1039C>T (p.Leu347Phe) rs111033436 0.00318
NM_001384140.1(PCDH15):c.1362C>T (p.Val454=) rs61735479 0.00267
NM_001384140.1(PCDH15):c.4368-1535T>C rs142158601 0.00260
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983 0.00224
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 0.00168
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro) rs144261647 0.00134
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738 0.00121
NM_001384140.1(PCDH15):c.-288T>C rs566733932 0.00081
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164 0.00081
NM_001384140.1(PCDH15):c.243G>A (p.Val81=) rs151119732 0.00073
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363 0.00054
NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met) rs142512524 0.00051
NM_001384140.1(PCDH15):c.-180C>T rs375866561 0.00048
NM_001384140.1(PCDH15):c.1256A>G (p.Asn419Ser) rs143827620 0.00048
NM_001384140.1(PCDH15):c.942A>G (p.Gln314=) rs149481989 0.00043
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.4368-1519A>G rs532994771 0.00036
NM_001384140.1(PCDH15):c.4368-1262G>A rs187860910 0.00031
NM_001384140.1(PCDH15):c.4368-1142G>A rs549184328 0.00029
NM_001384140.1(PCDH15):c.3724G>A (p.Val1242Met) rs201137087 0.00026
NM_001384140.1(PCDH15):c.4368-1564A>T rs188426462 0.00024
NM_001384140.1(PCDH15):c.593C>T (p.Pro198Leu) rs145232643 0.00024
NM_001384140.1(PCDH15):c.4080G>A (p.Val1360=) rs111033499 0.00021
NM_033056.4(PCDH15):c.4974A>C (p.Ser1658=) rs147993163 0.00017
NM_001384140.1(PCDH15):c.3450C>A (p.Ile1150=) rs146374856 0.00016
NM_001384140.1(PCDH15):c.4103A>G (p.Glu1368Gly) rs111033449 0.00016
NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=) rs150303579 0.00014
NM_001384140.1(PCDH15):c.1649T>G (p.Val550Gly) rs61735482 0.00013
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile) rs146199636 0.00013
NM_001384140.1(PCDH15):c.8G>A (p.Arg3Gln) rs372085398 0.00013
NM_033056.4(PCDH15):c.4892C>A (p.Ala1631Glu) rs56332160 0.00013
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636 0.00013
NM_001384140.1(PCDH15):c.4368-1028C>A rs898510053 0.00011
NM_001384140.1(PCDH15):c.1997C>T (p.Thr666Ile) rs146121822 0.00009
NM_001384140.1(PCDH15):c.2823G>T (p.Lys941Asn) rs773599066 0.00009
NM_001384140.1(PCDH15):c.2807C>T (p.Ala936Val) rs369029215 0.00008
NM_001384140.1(PCDH15):c.575A>G (p.Gln192Arg) rs201496062 0.00007
NM_001384140.1(PCDH15):c.3555A>G (p.Ile1185Met) rs773283153 0.00006
NM_001384140.1(PCDH15):c.594G>A (p.Pro198=) rs368308772 0.00006
NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=) rs767811568 0.00006
NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg) rs745583797 0.00005
NM_033056.4(PCDH15):c.5510C>T (p.Ser1837Phe) rs140047846 0.00005
NM_001384140.1(PCDH15):c.3456T>C (p.Gly1152=) rs202091131 0.00004
NM_001384140.1(PCDH15):c.4272A>G (p.Pro1424=) rs759109238 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_001384140.1(PCDH15):c.952G>C (p.Asp318His) rs747921916 0.00004
NM_033056.4(PCDH15):c.5450C>T (p.Pro1817Leu) rs759208006 0.00004
NM_001384140.1(PCDH15):c.466G>C (p.Val156Leu) rs534173969 0.00003
NM_001384140.1(PCDH15):c.986-11A>G rs374641355 0.00003
NM_033056.4(PCDH15):c.5283T>A (p.Ala1761=) rs375134176 0.00003
NM_033056.4(PCDH15):c.5566G>A (p.Glu1856Lys) rs371269732 0.00003
NM_001384140.1(PCDH15):c.-126G>A rs551107079 0.00002
NM_001384140.1(PCDH15):c.1169A>G (p.Asn390Ser) rs397517450 0.00002
NM_001384140.1(PCDH15):c.2768C>T (p.Pro923Leu) rs191577774 0.00002
NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu) rs397517461 0.00002
NM_001384140.1(PCDH15):c.1172A>G (p.Gln391Arg) rs758680936 0.00001
NM_001384140.1(PCDH15):c.1179A>G (p.Pro393=) rs1484114119 0.00001
NM_001384140.1(PCDH15):c.1440+11T>G rs781463273 0.00001
NM_001384140.1(PCDH15):c.1631T>G (p.Ile544Ser) rs886047066 0.00001
NM_001384140.1(PCDH15):c.1780C>A (p.Arg594=) rs1252259548 0.00001
NM_001384140.1(PCDH15):c.1808T>C (p.Ile603Thr) rs893216164 0.00001
NM_001384140.1(PCDH15):c.2138A>G (p.Asn713Ser) rs190878515 0.00001
NM_001384140.1(PCDH15):c.2445C>T (p.Asn815=) rs768200772 0.00001
NM_001384140.1(PCDH15):c.2539G>A (p.Asp847Asn) rs751941551 0.00001
NM_001384140.1(PCDH15):c.2685G>C (p.Leu895=) rs759471464 0.00001
NM_001384140.1(PCDH15):c.2709A>G (p.Gly903=) rs886047064 0.00001
NM_001384140.1(PCDH15):c.3195A>G (p.Gln1065=) rs776720353 0.00001
NM_001384140.1(PCDH15):c.3501+7G>T rs756402556 0.00001
NM_001384140.1(PCDH15):c.4260C>T (p.Pro1420=) rs775658931 0.00001
NM_001384140.1(PCDH15):c.4368-1070T>A rs886047054 0.00001
NM_001384140.1(PCDH15):c.526G>A (p.Ala176Thr) rs758750902 0.00001
NM_033056.4(PCDH15):c.4385A>G (p.His1462Arg) rs781324011 0.00001
NM_033056.4(PCDH15):c.5313T>G (p.Ile1771Met) rs886047061 0.00001
NM_033056.4(PCDH15):c.5864T>C (p.Leu1955Pro) rs751586980 0.00001
NM_001384140.1(PCDH15):c.-155G>C rs886047069
NM_001384140.1(PCDH15):c.1098+14A>G rs764625426
NM_001384140.1(PCDH15):c.1373G>A (p.Gly458Asp) rs766969775
NM_001384140.1(PCDH15):c.1643T>G (p.Ile548Ser) rs376751126
NM_001384140.1(PCDH15):c.1757C>T (p.Ala586Val) rs201301491
NM_001384140.1(PCDH15):c.1934G>T (p.Gly645Val) rs763226433
NM_001384140.1(PCDH15):c.2220+9A>G rs886047065
NM_001384140.1(PCDH15):c.2723G>A (p.Gly908Asp) rs746314678
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_001384140.1(PCDH15):c.3313C>A (p.Leu1105Ile) rs1240526910
NM_001384140.1(PCDH15):c.3782A>C (p.Glu1261Ala) rs201106387
NM_001384140.1(PCDH15):c.400C>A (p.Arg134=) rs137853003
NM_001384140.1(PCDH15):c.4202+5G>A rs886047063
NM_001384140.1(PCDH15):c.4275A>C (p.Ala1425=) rs774100942
NM_001384140.1(PCDH15):c.4368-1116G>C rs571779869
NM_001384140.1(PCDH15):c.4368-1118T>C rs2076261196
NM_001384140.1(PCDH15):c.4368-1169A>G rs534928410
NM_001384140.1(PCDH15):c.4368-1239G>A rs886047055
NM_001384140.1(PCDH15):c.4368-1493T>C rs886047058
NM_001384140.1(PCDH15):c.4368-1555C>T rs184835185
NM_001384140.1(PCDH15):c.466G>A (p.Val156Met) rs534173969
NM_001384140.1(PCDH15):c.665A>G (p.Tyr222Cys) rs755845400
NM_001384140.1(PCDH15):c.851C>T (p.Ala284Val) rs777071595
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.5480G>T (p.Cys1827Phe) rs776844300
NM_033056.4(PCDH15):c.5653C>T (p.His1885Tyr) rs886047060
NM_033056.4(PCDH15):c.5726G>T (p.Arg1909Leu) rs145851144
NM_033056.4(PCDH15):c.5824G>A (p.Glu1942Lys) rs200913448

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