ClinVar Miner

List of variants in gene PKP2 reported by Genome Diagnostics Laboratory,University Medical Center Utrecht

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Total variants: 24
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HGVS dbSNP
NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116
NM_001005242.3(PKP2):c.1171-10T>C rs200122872
NM_001005242.3(PKP2):c.1171-11T>C rs183414126
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825
NM_001005242.3(PKP2):c.1557-13dup rs200009796
NM_001005242.3(PKP2):c.195C>T (p.Ala65=) rs397517014
NM_001005242.3(PKP2):c.2014-1G>C rs193922674
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145
NM_001005242.3(PKP2):c.2167+7C>T rs74072938
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.2357+13_2357+14insC rs149968852
NM_001005242.3(PKP2):c.2357+1G>A rs111517471
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_004572.3(PKP2):c.1848C>A (p.Tyr616Ter) rs1486464304
NM_004572.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548
NM_004572.3(PKP2):c.2300-11del rs746936605
NM_004572.3(PKP2):c.2300-20dup rs746936605
NM_004572.3(PKP2):c.2300-21_2300-20del rs200266270
NM_004572.3(PKP2):c.2386T>C (p.Cys796Arg) rs794729098
NM_004572.3(PKP2):c.2489+12_2489+13insC rs1555141019
NM_004572.3(PKP2):c.397C>T (p.Gln133Ter) rs794729132

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