ClinVar Miner

List of variants studied for arrhythmogenic right ventricular dysplasia 9 by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_001005242.2(PKP2):c.184C>A (p.Gln62Lys) rs199601548
NM_001005242.2(PKP2):c.1930T>C (p.Ser644Pro) rs144601090
NM_004572.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_004572.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116
NM_004572.3(PKP2):c.1116T>C (p.Ala372=) rs142742483
NM_004572.3(PKP2):c.1171-10T>C rs200122872
NM_004572.3(PKP2):c.1171-11T>C rs183414126
NM_004572.3(PKP2):c.1211dupT (p.Val406Serfs) rs397516989
NM_004572.3(PKP2):c.1511-18A>G rs113698150
NM_004572.3(PKP2):c.1577C>T (p.Thr526Met) rs146882581
NM_004572.3(PKP2):c.165G>T (p.Arg55=) rs1472609900
NM_004572.3(PKP2):c.1671C>T (p.Asn557=) rs535581825
NM_004572.3(PKP2):c.1689-8dupT rs200009796
NM_004572.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145
NM_004572.3(PKP2):c.2146-1G>C rs193922674
NM_004572.3(PKP2):c.2253G>A (p.Ser751=) rs139098675
NM_004572.3(PKP2):c.2299+7C>T rs74072938
NM_004572.3(PKP2):c.2300-11_2300-10insT rs746936605
NM_004572.3(PKP2):c.2431C>A (p.Arg811Ser) rs139734328
NM_004572.3(PKP2):c.2489+13_2489+14insC rs149968852
NM_004572.3(PKP2):c.2489+1G>A rs111517471
NM_004572.3(PKP2):c.364C>T (p.Arg122Cys) rs759377911
NM_004572.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_004572.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_004572.3(PKP2):c.713C>T (p.Pro238Leu) rs560220280
NM_004572.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_004572.3(PKP2):c.819G>A (p.Pro273=) rs3748279
NM_004572.3(PKP2):c.895C>T (p.Arg299Cys) rs564987195
NM_004572.3(PKP2):c.939C>T (p.Ser313=) rs61729381
NM_004572.3(PKP2):c.951G>A (p.Ala317=) rs61729382

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