ClinVar Miner

List of variants in gene PKP2 reported as likely benign by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

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Gene type:
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Total variants: 44
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HGVS dbSNP
NM_001005242.3(PKP2):c.1080C>T (p.Leu360=) rs397516984
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944
NM_001005242.3(PKP2):c.1171-10T>C rs200122872
NM_001005242.3(PKP2):c.1171-11T>C rs183414126
NM_001005242.3(PKP2):c.1287C>T (p.Asn429=) rs727505239
NM_001005242.3(PKP2):c.12C>T (p.Pro4=) rs397516991
NM_001005242.3(PKP2):c.1379-2005A>G rs397516995
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser) rs144536197
NM_001005242.3(PKP2):c.1442T>G (p.Leu481Arg) rs397516998
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581
NM_001005242.3(PKP2):c.1504G>A (p.Ala502Thr) rs368740836
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825
NM_001005242.3(PKP2):c.1556+9A>G rs397517004
NM_001005242.3(PKP2):c.1608C>T (p.Asp536=) rs397517006
NM_001005242.3(PKP2):c.1624C>T (p.Leu542=) rs397517007
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241
NM_001005242.3(PKP2):c.1674+15A>C rs749247141
NM_001005242.3(PKP2):c.1863G>A (p.Pro621=) rs146144731
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.1965A>G (p.Gln655=) rs727505293
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=) rs529442984
NM_001005242.3(PKP2):c.2037A>G (p.Thr679=) rs377504106
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855
NM_001005242.3(PKP2):c.2268C>T (p.Asn756=) rs876657564
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn) rs151264959
NM_001005242.3(PKP2):c.2355T>C (p.Asp785=) rs142362933
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.419C>T (p.Ser140Phe) rs150821281
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_001005242.3(PKP2):c.558C>T (p.Ala186=) rs184522105
NM_001005242.3(PKP2):c.559G>A (p.Ala187Thr) rs200095747
NM_001005242.3(PKP2):c.611G>A (p.Arg204His) rs755215178
NM_001005242.3(PKP2):c.696C>T (p.Asp232=) rs375677250
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015
NM_001005242.3(PKP2):c.714G>A (p.Pro238=) rs727503372
NM_001005242.3(PKP2):c.795G>T (p.Gly265=) rs375268778
NM_001005242.3(PKP2):c.888C>T (p.His296=) rs397517029
NM_001005242.3(PKP2):c.918C>T (p.Pro306=) rs368656084
NM_001005242.3(PKP2):c.978A>G (p.Ala326=) rs775137004
NM_004572.3(PKP2):c.1415C>T (p.Pro472Leu) rs758950276

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