ClinVar Miner

List of variants studied for arrhythmogenic right ventricular dysplasia 9 by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 122
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HGVS dbSNP
NC_000012.12:g.32896797C>G
NM_001005242.3(PKP2):c.*1394A>T
NM_001005242.3(PKP2):c.*1527G>A
NM_001005242.3(PKP2):c.*303A>G
NM_001005242.3(PKP2):c.*429A>T
NM_001005242.3(PKP2):c.-22C>G rs373925978
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_001005242.3(PKP2):c.1073G>A (p.Ser358Asn)
NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116
NM_001005242.3(PKP2):c.1116T>C (p.Ala372=) rs142742483
NM_001005242.3(PKP2):c.1171-10T>C rs200122872
NM_001005242.3(PKP2):c.1171-11T>C rs183414126
NM_001005242.3(PKP2):c.1189A>G (p.Ile397Val)
NM_001005242.3(PKP2):c.1236G>A (p.Gln412=)
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473
NM_001005242.3(PKP2):c.1379-2012C>T
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser) rs144536197
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502
NM_001005242.3(PKP2):c.1509T>C (p.Asn503=) rs143782040
NM_001005242.3(PKP2):c.1528A>G (p.Ile510Val) rs397517002
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825
NM_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997
NM_001005242.3(PKP2):c.1602A>T (p.Arg534Ser)
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241
NM_001005242.3(PKP2):c.1675-3C>T
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884
NM_001005242.3(PKP2):c.193G>T (p.Ala65Ser) rs143323961
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) rs199583774
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser) rs140852019
NM_001005242.3(PKP2):c.195C>T (p.Ala65=) rs397517014
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=) rs529442984
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu) rs144018320
NM_001005242.3(PKP2):c.2037A>G (p.Thr679=) rs377504106
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145
NM_001005242.3(PKP2):c.2167+7C>T rs74072938
NM_001005242.3(PKP2):c.2216C>T (p.Pro739Leu)
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val) rs551045165
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn) rs200947767
NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val) rs145324631
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509
NM_001005242.3(PKP2):c.2445+11G>T
NM_001005242.3(PKP2):c.2455A>G (p.Lys819Glu)
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398
NM_001005242.3(PKP2):c.306C>A (p.Ser102=) rs376613662
NM_001005242.3(PKP2):c.38T>A (p.Ile13Asn)
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn) rs373222905
NM_001005242.3(PKP2):c.611G>A (p.Arg204His) rs755215178
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015
NM_001005242.3(PKP2):c.725C>T (p.Thr242Met) rs201580443
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_001005242.3(PKP2):c.791C>T (p.Ala264Val) rs62001016
NM_001005242.3(PKP2):c.795G>T (p.Gly265=) rs375268778
NM_001005242.3(PKP2):c.819G>A (p.Pro273=) rs3748279
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276
NM_001005242.3(PKP2):c.918C>T (p.Pro306=) rs368656084
NM_001005242.3(PKP2):c.921T>C (p.Ser307=)
NM_001005242.3(PKP2):c.939C>T (p.Ser313=) rs61729381
NM_001005242.3(PKP2):c.951G>A (p.Ala317=) rs61729382
NM_001005242.3(PKP2):c.972G>A (p.Ala324=) rs142636176
NM_004572.3(PKP2):c.*110T>G rs575103888
NM_004572.3(PKP2):c.*1196G>A rs1046138
NM_004572.3(PKP2):c.*1246C>T rs187618849
NM_004572.3(PKP2):c.*1271G>C rs12314796
NM_004572.3(PKP2):c.*1431G>A rs1046150
NM_004572.3(PKP2):c.*1563G>T rs1046154
NM_004572.3(PKP2):c.*1602A>G rs760973876
NM_004572.3(PKP2):c.*180C>G rs886049319
NM_004572.3(PKP2):c.*215G>A rs886049318
NM_004572.3(PKP2):c.*227T>C rs886049317
NM_004572.3(PKP2):c.*22G>A rs371003054
NM_004572.3(PKP2):c.*251C>G rs12612
NM_004572.3(PKP2):c.*252A>G rs886049316
NM_004572.3(PKP2):c.*281A>G rs78540632
NM_004572.3(PKP2):c.*330A>G rs375759731
NM_004572.3(PKP2):c.*400A>G rs529644235
NM_004572.3(PKP2):c.*41G>A rs754465954
NM_004572.3(PKP2):c.*607A>C rs187797390
NM_004572.3(PKP2):c.*646G>A rs144983891
NM_004572.3(PKP2):c.*683T>C rs144110140
NM_004572.3(PKP2):c.*812C>T rs9394
NM_004572.3(PKP2):c.*839C>T rs542578192
NM_004572.3(PKP2):c.*932C>A rs766792445
NM_004572.3(PKP2):c.*944C>A rs6488090
NM_004572.3(PKP2):c.-51C>T rs886049326
NM_004572.3(PKP2):c.-70C>T rs886049327
NM_004572.3(PKP2):c.-79G>T rs886049328
NM_004572.3(PKP2):c.-90G>T rs552373947
NM_004572.3(PKP2):c.-99T>C rs565997897
NM_004572.3(PKP2):c.1064G>A (p.Arg355Gln) rs370868564
NM_004572.3(PKP2):c.1180C>T (p.Leu394Phe) rs886049321
NM_004572.3(PKP2):c.1231G>A (p.Val411Ile) rs192041220
NM_004572.3(PKP2):c.1323G>T (p.Arg441=) rs3748278
NM_004572.3(PKP2):c.1419C>T (p.Gly473=) rs377424658
NM_004572.3(PKP2):c.1421C>T (p.Ala474Val) rs373399921
NM_004572.3(PKP2):c.1449T>C (p.Thr483=) rs781397552
NM_004572.3(PKP2):c.146A>G (p.Gln49Arg) rs763492084
NM_004572.3(PKP2):c.1487T>A (p.Val496Asp) rs769899368
NM_004572.3(PKP2):c.1490G>A (p.Arg497Gln) rs781072699
NM_004572.3(PKP2):c.1558A>G (p.Ile520Val) rs763749576
NM_004572.3(PKP2):c.1584G>A (p.Thr528=) rs727504098
NM_004572.3(PKP2):c.1596C>T (p.Ile532=) rs145387575
NM_004572.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548
NM_004572.3(PKP2):c.1872G>T (p.Glu624Asp) rs370219248
NM_004572.3(PKP2):c.2019C>T (p.Gly673=) rs368325383
NM_004572.3(PKP2):c.2020G>A (p.Val674Met) rs143038626
NM_004572.3(PKP2):c.2151G>A (p.Pro717=) rs147995773
NM_004572.3(PKP2):c.2200A>G (p.Thr734Ala) rs867374780
NM_004572.3(PKP2):c.2322G>A (p.Leu774=) rs886049320
NM_004572.3(PKP2):c.2636T>G (p.Leu879Arg) rs775572104
NM_004572.3(PKP2):c.307C>A (p.Pro103Thr) rs139215336
NM_004572.3(PKP2):c.387G>A (p.Gln129=) rs768974835
NM_004572.3(PKP2):c.489C>T (p.His163=) rs771398047
NM_004572.3(PKP2):c.493G>A (p.Asp165Asn) rs886049322
NM_004572.3(PKP2):c.837C>T (p.Pro279=) rs572938229
NM_004572.3(PKP2):c.953A>C (p.His318Pro) rs181098323

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