ClinVar Miner

List of variants in gene PKP2 reported by Integrated Genetics/Laboratory Corporation of America

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Gene type:
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Total variants: 41
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HGVS dbSNP
NM_004572.3(PKP2):c.1034+1G>A rs869025496
NM_004572.3(PKP2):c.1138G>T (p.Glu380Ter) rs878898365
NM_004572.3(PKP2):c.1171-10T>C rs200122872
NM_004572.3(PKP2):c.1211dup (p.Val406fs) rs397516989
NM_004572.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156
NM_004572.3(PKP2):c.1245G>A (p.Val415=) rs1555145513
NM_004572.3(PKP2):c.1379-1G>A rs139159464
NM_004572.3(PKP2):c.1468C>T (p.Arg490Trp) rs149930872
NM_004572.3(PKP2):c.14del (p.Gly5fs) rs397516996
NM_004572.3(PKP2):c.1550A>G (p.Asn517Ser) rs144536197
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.1613G>A (p.Trp538Ter) rs193922672
NM_004572.3(PKP2):c.1671C>T (p.Asn557=) rs535581825
NM_004572.3(PKP2):c.1759G>A (p.Val587Ile) rs146102241
NM_004572.3(PKP2):c.1812G>A (p.Thr604=) rs773662874
NM_004572.3(PKP2):c.1840del (p.Leu614fs) rs1555142994
NM_004572.3(PKP2):c.1872G>T (p.Glu624Asp) rs370219248
NM_004572.3(PKP2):c.2013del (p.Lys672fs) rs764817683
NM_004572.3(PKP2):c.2028G>A (p.Trp676Ter) rs193922673
NM_004572.3(PKP2):c.2146-1G>C rs193922674
NM_004572.3(PKP2):c.2197_2202delinsG (p.His733fs) rs397517021
NM_004572.3(PKP2):c.2300-11delT rs746936605
NM_004572.3(PKP2):c.2300-4G>C rs376231586
NM_004572.3(PKP2):c.2310_2311TC[1] (p.Leu771fs) rs1064794350
NM_004572.3(PKP2):c.2349G>A (p.Pro783=) rs753226330
NM_004572.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420
NM_004572.3(PKP2):c.2365A>G (p.Ile789Val) rs551045165
NM_004572.3(PKP2):c.2443_2448delinsGAAA (p.Asn815fs) rs786204395
NM_004572.3(PKP2):c.2540T>C (p.Leu847Pro) rs1064794215
NM_004572.3(PKP2):c.336+17T>G rs185681814
NM_004572.3(PKP2):c.418T>A (p.Ser140Thr) rs727503373
NM_004572.3(PKP2):c.457G>A (p.Asp153Asn) rs747856983
NM_004572.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_004572.3(PKP2):c.567A>G (p.Leu189=) rs1555148149
NM_004572.3(PKP2):c.68G>A (p.Gly23Glu) rs746530389
NM_004572.3(PKP2):c.789G>A (p.Thr263=) rs760432217
NM_004572.3(PKP2):c.900G>A (p.Thr300=) rs140235564
NM_004572.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860
NM_004572.3(PKP2):c.972G>A (p.Ala324=) rs142636176

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