ClinVar Miner

List of variants in gene PKP2 reported as benign for arrhythmogenic right ventricular dysplasia 9

Included ClinVar conditions (1):
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Total variants: 33
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HGVS dbSNP
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.1171-11T>C rs183414126
NM_004572.3(PKP2):c.1323G>T (p.Arg441=) rs3748278
NM_004572.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473
NM_004572.3(PKP2):c.1419C>T (p.Gly473=) rs377424658
NM_004572.3(PKP2):c.156G>A (p.Lys52=) rs201210997
NM_004572.3(PKP2):c.1577C>T (p.Thr526Met) rs146882581
NM_004572.3(PKP2):c.1592T>G (p.Ile531Ser) rs147240502
NM_004572.3(PKP2):c.1641T>C (p.Asn547=) rs143782040
NM_004572.3(PKP2):c.1671C>T (p.Asn557=) rs535581825
NM_004572.3(PKP2):c.1689-13dup rs200009796
NM_004572.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884
NM_004572.3(PKP2):c.1995G>A (p.Pro665=) rs146144731
NM_004572.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145
NM_004572.3(PKP2):c.2133C>T (p.Ala711=) rs529442984
NM_004572.3(PKP2):c.2169A>G (p.Thr723=) rs377504106
NM_004572.3(PKP2):c.2299+7C>T rs74072938
NM_004572.3(PKP2):c.2300-20dup rs746936605
NM_004572.3(PKP2):c.2300-21_2300-20del rs200266270
NM_004572.3(PKP2):c.2300-6T>C rs368531764
NM_004572.3(PKP2):c.2392A>G (p.Thr798Ala) rs112592855
NM_004572.3(PKP2):c.2485G>A (p.Asp829Asn) rs151264959
NM_004572.3(PKP2):c.2489+13_2489+14insC rs149968852
NM_004572.3(PKP2):c.306C>A (p.Ser102=) rs376613662
NM_004572.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015
NM_004572.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_004572.3(PKP2):c.791C>T (p.Ala264Val) rs62001016
NM_004572.3(PKP2):c.819G>A (p.Pro273=) rs3748279
NM_004572.3(PKP2):c.939C>T (p.Ser313=) rs61729381
NM_004572.3(PKP2):c.951G>A (p.Ala317=) rs61729382
NM_004572.3(PKP2):c.972G>A (p.Ala324=) rs142636176

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