ClinVar Miner

List of variants in gene PKP2 reported as uncertain significance for not provided

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Gene type:
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Total variants: 72
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HGVS dbSNP
NM_004572.3(PKP2):c.1045A>G (p.Met349Val) rs199957846
NM_004572.3(PKP2):c.1093A>G (p.Met365Val) rs143900944
NM_004572.3(PKP2):c.1130T>C (p.Ile377Thr) rs397516985
NM_004572.3(PKP2):c.1170+5G>A rs794729105
NM_004572.3(PKP2):c.1181T>A (p.Leu394His) rs766842360
NM_004572.3(PKP2):c.1238G>A (p.Arg413Gln) rs200715477
NM_004572.3(PKP2):c.1245G>A (p.Val415=) rs1555145513
NM_004572.3(PKP2):c.1246T>C (p.Cys416Arg) rs1555145510
NM_004572.3(PKP2):c.1367A>G (p.Lys456Arg) rs750897570
NM_004572.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473
NM_004572.3(PKP2):c.1390A>C (p.Asn464His) rs1555144761
NM_004572.3(PKP2):c.1421C>T (p.Ala474Val) rs373399921
NM_004572.3(PKP2):c.14G>A (p.Gly5Asp) rs774778142
NM_004572.3(PKP2):c.1558A>G (p.Ile520Val) rs763749576
NM_004572.3(PKP2):c.1576A>G (p.Thr526Ala) rs397516999
NM_004572.3(PKP2):c.1584G>A (p.Thr528=) rs727504098
NM_004572.3(PKP2):c.1669A>G (p.Asn557Asp) rs200343561
NM_004572.3(PKP2):c.1672G>A (p.Val558Ile) rs376102257
NM_004572.3(PKP2):c.1744C>T (p.Leu582Phe) rs794729134
NM_004572.3(PKP2):c.1776A>T (p.Gly592=) rs1555143127
NM_004572.3(PKP2):c.1812G>A (p.Thr604=) rs773662874
NM_004572.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548
NM_004572.3(PKP2):c.1872G>T (p.Glu624Asp) rs370219248
NM_004572.3(PKP2):c.1876T>A (p.Tyr626Asn) rs794729112
NM_004572.3(PKP2):c.1928A>G (p.Lys643Arg) rs533659697
NM_004572.3(PKP2):c.1972-5G>C rs752016948
NM_004572.3(PKP2):c.19C>T (p.Pro7Ser) rs764645176
NM_004572.3(PKP2):c.202G>A (p.Gly68Ser) rs794729114
NM_004572.3(PKP2):c.2060T>G (p.Leu687Arg) rs794729113
NM_004572.3(PKP2):c.2062T>C (p.Ser688Pro) rs144601090
NM_004572.3(PKP2):c.2083C>T (p.Arg695Cys) rs199583774
NM_004572.3(PKP2):c.2084G>A (p.Arg695His) rs758813231
NM_004572.3(PKP2):c.2121G>T (p.Gln707His) rs765884775
NM_004572.3(PKP2):c.2125C>T (p.Leu709Phe) rs397517018
NM_004572.3(PKP2):c.2213T>G (p.Leu738Arg) rs794729115
NM_004572.3(PKP2):c.2222G>T (p.Gly741Val) rs143503798
NM_004572.3(PKP2):c.2245_2246delinsAT (p.Ala749Ile) rs1565574704
NM_004572.3(PKP2):c.2273G>A (p.Arg758Gln) rs397517020
NM_004572.3(PKP2):c.2300-4G>C rs376231586
NM_004572.3(PKP2):c.2303A>C (p.Lys768Thr) rs201487421
NM_004572.3(PKP2):c.2349G>A (p.Pro783=) rs753226330
NM_004572.3(PKP2):c.2464A>G (p.Ile822Val) rs145324631
NM_004572.3(PKP2):c.2464A>T (p.Ile822Phe) rs145324631
NM_004572.3(PKP2):c.2492A>G (p.Tyr831Cys) rs200411128
NM_004572.3(PKP2):c.250C>T (p.Pro84Ser) rs756468173
NM_004572.3(PKP2):c.2524G>A (p.Val842Ile) rs368633311
NM_004572.3(PKP2):c.2537C>A (p.Ser846Tyr) rs768808114
NM_004572.3(PKP2):c.2540T>C (p.Leu847Pro) rs1064794215
NM_004572.3(PKP2):c.2578-8T>G rs794729101
NM_004572.3(PKP2):c.2631C>A (p.His877Gln) rs202094467
NM_004572.3(PKP2):c.277G>T (p.Val93Phe) rs1201468352
NM_004572.3(PKP2):c.302G>A (p.Arg101His) rs149542398
NM_004572.3(PKP2):c.307C>A (p.Pro103Thr) rs139215336
NM_004572.3(PKP2):c.336+17T>G rs185681814
NM_004572.3(PKP2):c.418T>A (p.Ser140Thr) rs727503373
NM_004572.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_004572.3(PKP2):c.457G>A (p.Asp153Asn) rs747856983
NM_004572.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322
NM_004572.3(PKP2):c.466C>G (p.Pro156Ala) rs794729102
NM_004572.3(PKP2):c.567A>G (p.Leu189=) rs1555148149
NM_004572.3(PKP2):c.634C>T (p.Arg212Cys) rs766379716
NM_004572.3(PKP2):c.68G>A (p.Gly23Glu) rs746530389
NM_004572.3(PKP2):c.746G>A (p.Ser249Asn) rs1085307949
NM_004572.3(PKP2):c.761A>C (p.Asn254Thr) rs769542968
NM_004572.3(PKP2):c.789G>A (p.Thr263=) rs760432217
NM_004572.3(PKP2):c.895C>T (p.Arg299Cys) rs564987195
NM_004572.3(PKP2):c.900G>A (p.Thr300=) rs140235564
NM_004572.3(PKP2):c.918C>T (p.Pro306=) rs368656084
NM_004572.3(PKP2):c.928G>A (p.Val310Met) rs768396351
NM_004572.3(PKP2):c.964G>A (p.Gly322Ser) rs200069860
NM_004572.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860
NM_004572.3(PKP2):c.980G>A (p.Gly327Glu) rs759660796

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