ClinVar Miner

List of variants in gene PKP2 reported by Color

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Gene type:
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Total variants: 81
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HGVS dbSNP
NM_001005242.2(PKP2):c.156G>A (p.Lys52=) rs201210997
NM_001005242.2(PKP2):c.2018C>T (p.Pro673Leu) rs144018320
NM_001005242.2(PKP2):c.2302G>A (p.Asp768Asn) rs200947767
NM_004572.3(PKP2):c.*5A>G
NM_004572.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_004572.3(PKP2):c.1093A>G (p.Met365Val) rs143900944
NM_004572.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116
NM_004572.3(PKP2):c.1101A>G (p.Pro367=)
NM_004572.3(PKP2):c.1114G>A (p.Ala372Thr)
NM_004572.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_004572.3(PKP2):c.1116T>C (p.Ala372=) rs142742483
NM_004572.3(PKP2):c.1171-10T>C rs200122872
NM_004572.3(PKP2):c.1171-11T>C rs183414126
NM_004572.3(PKP2):c.1230C>T (p.Asp410=) rs148364390
NM_004572.3(PKP2):c.1326G>A (p.Leu442=) rs377076035
NM_004572.3(PKP2):c.1328T>C (p.Leu443Pro)
NM_004572.3(PKP2):c.136C>A (p.Arg46Ser)
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.1449T>C (p.Thr483=) rs781397552
NM_004572.3(PKP2):c.1468C>T (p.Arg490Trp) rs149930872
NM_004572.3(PKP2):c.1476G>A (p.Thr492=)
NM_004572.3(PKP2):c.1487T>A (p.Val496Asp)
NM_004572.3(PKP2):c.1550A>G (p.Asn517Ser) rs144536197
NM_004572.3(PKP2):c.1558A>G (p.Ile520Val) rs763749576
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.1651G>A (p.Asp551Asn)
NM_004572.3(PKP2):c.1671C>T (p.Asn557=) rs535581825
NM_004572.3(PKP2):c.1689-8dupT rs200009796
NM_004572.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884
NM_004572.3(PKP2):c.1759G>A (p.Val587Ile) rs146102241
NM_004572.3(PKP2):c.1811C>T (p.Thr604Met) rs373360192
NM_004572.3(PKP2):c.1839C>G (p.Asn613Lys)
NM_004572.3(PKP2):c.1907A>T (p.Asn636Ile)
NM_004572.3(PKP2):c.195C>T (p.Ala65=) rs397517014
NM_004572.3(PKP2):c.1995G>A (p.Pro665=) rs146144731
NM_004572.3(PKP2):c.2075A>G (p.Lys692Arg)
NM_004572.3(PKP2):c.2097A>G (p.Gln699=) rs727505293
NM_004572.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145
NM_004572.3(PKP2):c.2129C>T (p.Thr710Met) rs397517016
NM_004572.3(PKP2):c.212C>T (p.Ser71Phe)
NM_004572.3(PKP2):c.2133C>T (p.Ala711=) rs529442984
NM_004572.3(PKP2):c.2146-1G>C rs193922674
NM_004572.3(PKP2):c.2300-4G>C rs376231586
NM_004572.3(PKP2):c.2300-6T>C rs368531764
NM_004572.3(PKP2):c.2349G>A (p.Pro783=) rs753226330
NM_004572.3(PKP2):c.2431C>A (p.Arg811Ser) rs139734328
NM_004572.3(PKP2):c.2431C>T (p.Arg811Cys) rs139734328
NM_004572.3(PKP2):c.2453G>T (p.Gly818Val)
NM_004572.3(PKP2):c.2485G>A (p.Asp829Asn) rs151264959
NM_004572.3(PKP2):c.2487T>C (p.Asp829=) rs142362933
NM_004572.3(PKP2):c.2499C>T (p.Ser833=)
NM_004572.3(PKP2):c.2534A>G (p.Tyr845Cys)
NM_004572.3(PKP2):c.2578-10dupT rs397517024
NM_004572.3(PKP2):c.2589G>A (p.Lys863=) rs777477467
NM_004572.3(PKP2):c.2619C>T (p.Ala873=) rs747191995
NM_004572.3(PKP2):c.2631C>A (p.His877Gln) rs202094467
NM_004572.3(PKP2):c.302G>A (p.Arg101His) rs149542398
NM_004572.3(PKP2):c.306C>A (p.Ser102=) rs376613662
NM_004572.3(PKP2):c.307C>G (p.Pro103Ala)
NM_004572.3(PKP2):c.373A>G (p.Arg125Gly)
NM_004572.3(PKP2):c.406G>A (p.Val136Met) rs567795321
NM_004572.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_004572.3(PKP2):c.45C>T (p.Thr15=) rs759214983
NM_004572.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322
NM_004572.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_004572.3(PKP2):c.548G>A (p.Ser183Asn) rs373222905
NM_004572.3(PKP2):c.741G>C (p.Gly247=)
NM_004572.3(PKP2):c.748C>A (p.Arg250Ser)
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.795G>T (p.Gly265=) rs375268778
NM_004572.3(PKP2):c.819G>A (p.Pro273=) rs3748279
NM_004572.3(PKP2):c.901C>T (p.Leu301=)
NM_004572.3(PKP2):c.927C>T (p.Ala309=) rs200152448
NM_004572.3(PKP2):c.928G>A (p.Val310Met) rs768396351
NM_004572.3(PKP2):c.941G>A (p.Gly314Glu) rs139903989
NM_004572.3(PKP2):c.983G>C (p.Gly328Ala)
NM_004572.3(PKP2):c.996G>A (p.Leu332=) rs144574595

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