ClinVar Miner

List of variants in gene PKP2 studied for not specified

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Gene type:
ClinVar version:
Total variants: 170
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HGVS dbSNP
NM_004572.3(PKP2):c.-15G>T rs886049325
NM_004572.3(PKP2):c.-16C>T rs1214374578
NM_004572.3(PKP2):c.-32A>C rs758069762
NM_004572.3(PKP2):c.-49C>G rs908732877
NM_004572.3(PKP2):c.-7C>T rs959129403
NM_004572.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_004572.3(PKP2):c.1034+4del rs397516983
NM_004572.3(PKP2):c.1035-9T>C rs1057522716
NM_004572.3(PKP2):c.1080C>T (p.Leu360=) rs397516984
NM_004572.3(PKP2):c.1093A>G (p.Met365Val) rs143900944
NM_004572.3(PKP2):c.1095G>A (p.Met365Ile) rs770333863
NM_004572.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116
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.1130T>C (p.Ile377Thr) rs397516985
NM_004572.3(PKP2):c.1170+4_1170+7del rs397516988
NM_004572.3(PKP2):c.1171-10T>C rs200122872
NM_004572.3(PKP2):c.1171-11T>C rs183414126
NM_004572.3(PKP2):c.1171-17A>G rs372942306
NM_004572.3(PKP2):c.1230C>T (p.Asp410=) rs148364390
NM_004572.3(PKP2):c.1287C>T (p.Asn429=) rs727505239
NM_004572.3(PKP2):c.12C>T (p.Pro4=) rs397516991
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.1378+18T>C rs374266697
NM_004572.3(PKP2):c.1379-1G>A rs139159464
NM_004572.3(PKP2):c.1385C>G (p.Thr462Arg)
NM_004572.3(PKP2):c.1415C>T (p.Pro472Leu) rs758950276
NM_004572.3(PKP2):c.1420G>A (p.Ala474Thr) rs138538072
NM_004572.3(PKP2):c.1433C>T (p.Ala478Val) rs144620127
NM_004572.3(PKP2):c.1438A>G (p.Asn480Asp) rs727505257
NM_004572.3(PKP2):c.1462G>A (p.Gly488Ser) rs537458442
NM_004572.3(PKP2):c.1468C>T (p.Arg490Trp) rs149930872
NM_004572.3(PKP2):c.1469G>A (p.Arg490Gln) rs369518480
NM_004572.3(PKP2):c.1482A>G (p.Ser494=) rs397516995
NM_004572.3(PKP2):c.1510+5G>A rs779392697
NM_004572.3(PKP2):c.1511-18A>G rs113698150
NM_004572.3(PKP2):c.1511-5T>C rs189036647
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.1574T>G (p.Leu525Arg) rs397516998
NM_004572.3(PKP2):c.1576A>G (p.Thr526Ala) rs397516999
NM_004572.3(PKP2):c.1577C>T (p.Thr526Met) rs146882581
NM_004572.3(PKP2):c.1580T>C (p.Leu527Pro) rs397517000
NM_004572.3(PKP2):c.1584G>A (p.Thr528=) rs727504098
NM_004572.3(PKP2):c.1592T>G (p.Ile531Ser) rs147240502
NM_004572.3(PKP2):c.159C>A (p.Ser53Arg) rs770694213
NM_004572.3(PKP2):c.1636G>A (p.Ala546Thr) rs368740836
NM_004572.3(PKP2):c.1641T>C (p.Asn547=) rs143782040
NM_004572.3(PKP2):c.1660A>G (p.Ile554Val) rs397517002
NM_004572.3(PKP2):c.1671C>T (p.Asn557=) rs535581825
NM_004572.3(PKP2):c.1688+10C>T rs1057521860
NM_004572.3(PKP2):c.1688+7C>T rs752585335
NM_004572.3(PKP2):c.1688+9A>G rs397517004
NM_004572.3(PKP2):c.1689-13dup rs200009796
NM_004572.3(PKP2):c.1707C>T (p.Gly569=) rs780049494
NM_004572.3(PKP2):c.1740C>T (p.Asp580=) rs397517006
NM_004572.3(PKP2):c.1742G>A (p.Gly581Glu) rs866789949
NM_004572.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884
NM_004572.3(PKP2):c.1756C>T (p.Leu586=) rs397517007
NM_004572.3(PKP2):c.1759G>A (p.Val587Ile) rs146102241
NM_004572.3(PKP2):c.1780A>G (p.Ile594Val) rs727503371
NM_004572.3(PKP2):c.1806+13A>C rs768698663
NM_004572.3(PKP2):c.1806+15A>C rs749247141
NM_004572.3(PKP2):c.1828A>G (p.Ile610Val) rs794729110
NM_004572.3(PKP2):c.1872G>T (p.Glu624Asp) rs370219248
NM_004572.3(PKP2):c.1889T>C (p.Ile630Thr) rs397517011
NM_004572.3(PKP2):c.1926C>A (p.Asn642Lys) rs727503370
NM_004572.3(PKP2):c.193G>T (p.Ala65Ser) rs143323961
NM_004572.3(PKP2):c.195C>T (p.Ala65=) rs397517014
NM_004572.3(PKP2):c.1974A>G (p.Gln658=) rs138901574
NM_004572.3(PKP2):c.1995G>A (p.Pro665=) rs146144731
NM_004572.3(PKP2):c.2020G>A (p.Val674Met) rs143038626
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.2087A>G (p.Asn696Ser) rs140852019
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.2125C>T (p.Leu709Phe) rs397517018
NM_004572.3(PKP2):c.2129C>T (p.Thr710Met) rs397517016
NM_004572.3(PKP2):c.2133C>T (p.Ala711=) rs529442984
NM_004572.3(PKP2):c.2145+45G>A rs10772008
NM_004572.3(PKP2):c.2146-19G>A rs1555141646
NM_004572.3(PKP2):c.2146-7A>G rs1555141645
NM_004572.3(PKP2):c.214G>T (p.Val72Leu) rs397517019
NM_004572.3(PKP2):c.2150C>T (p.Pro717Leu) rs144018320
NM_004572.3(PKP2):c.2169A>G (p.Thr723=) rs377504106
NM_004572.3(PKP2):c.2202C>G (p.Thr734=) rs587781109
NM_004572.3(PKP2):c.2222G>T (p.Gly741Val) rs143503798
NM_004572.3(PKP2):c.222C>A (p.Asn74Lys) rs753180642
NM_004572.3(PKP2):c.224-18A>T rs370733920
NM_004572.3(PKP2):c.224-3C>G rs786204387
NM_004572.3(PKP2):c.2273G>A (p.Arg758Gln) rs397517020
NM_004572.3(PKP2):c.2299+7C>T rs74072938
NM_004572.3(PKP2):c.2300-19T>A rs527736735
NM_004572.3(PKP2):c.2300-21_2300-20delGT rs200266270
NM_004572.3(PKP2):c.2300-21delG rs57690055
NM_004572.3(PKP2):c.2300-6T>C rs368531764
NM_004572.3(PKP2):c.2360T>G (p.Leu787Arg) rs145553222
NM_004572.3(PKP2):c.2365A>G (p.Ile789Val) rs551045165
NM_004572.3(PKP2):c.2378C>A (p.Ala793Asp) rs727504950
NM_004572.3(PKP2):c.2392A>G (p.Thr798Ala) rs112592855
NM_004572.3(PKP2):c.2400C>T (p.Asn800=) rs876657564
NM_004572.3(PKP2):c.2431C>A (p.Arg811Ser) rs139734328
NM_004572.3(PKP2):c.2434G>A (p.Asp812Asn) rs200947767
NM_004572.3(PKP2):c.2448C>T (p.Thr816=) rs369837002
NM_004572.3(PKP2):c.2482G>A (p.Gly828Ser) rs750119363
NM_004572.3(PKP2):c.2484C>T (p.Gly828=) rs727504509
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.2489+13_2489+14insC rs149968852
NM_004572.3(PKP2):c.2489C>A (p.Ala830Asp) rs1057518582
NM_004572.3(PKP2):c.2490-18A>G rs937966545
NM_004572.3(PKP2):c.2490C>T (p.Ala830=) rs1555140707
NM_004572.3(PKP2):c.2524G>A (p.Val842Ile) rs368633311
NM_004572.3(PKP2):c.2552C>T (p.Thr851Met) rs146118033
NM_004572.3(PKP2):c.2553G>A (p.Thr851=) rs199900632
NM_004572.3(PKP2):c.2554G>A (p.Glu852Lys) rs727505312
NM_004572.3(PKP2):c.2560C>T (p.His854Tyr) rs397517023
NM_004572.3(PKP2):c.2577+1G>A rs1060499891
NM_004572.3(PKP2):c.2578-11dup rs397517024
NM_004572.3(PKP2):c.2578-8T>G rs794729101
NM_004572.3(PKP2):c.2578-9A>T rs1057524088
NM_004572.3(PKP2):c.2615C>T (p.Thr872Ile) rs370599966
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>A (p.Pro103Thr) rs139215336
NM_004572.3(PKP2):c.387G>A (p.Gln129=) rs768974835
NM_004572.3(PKP2):c.406G>A (p.Val136Met) rs567795321
NM_004572.3(PKP2):c.409G>A (p.Glu137Lys) rs781739949
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.462C>G (p.Ser154Arg) rs397517026
NM_004572.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322
NM_004572.3(PKP2):c.473G>A (p.Arg158Lys) rs397517027
NM_004572.3(PKP2):c.504C>T (p.Tyr168=) rs1057520930
NM_004572.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_004572.3(PKP2):c.516C>A (p.Ser172Arg) rs397517028
NM_004572.3(PKP2):c.548G>A (p.Ser183Asn) rs373222905
NM_004572.3(PKP2):c.558C>T (p.Ala186=) rs184522105
NM_004572.3(PKP2):c.559G>A (p.Ala187Thr) rs200095747
NM_004572.3(PKP2):c.611G>A (p.Arg204His) rs755215178
NM_004572.3(PKP2):c.68G>A (p.Gly23Glu) rs746530389
NM_004572.3(PKP2):c.696C>T (p.Asp232=) rs375677250
NM_004572.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015
NM_004572.3(PKP2):c.714G>A (p.Pro238=) rs727503372
NM_004572.3(PKP2):c.720G>A (p.Leu240=) rs777567315
NM_004572.3(PKP2):c.725C>T (p.Thr242Met) rs201580443
NM_004572.3(PKP2):c.730C>G (p.Pro244Ala) rs756376477
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.811G>A (p.Val271Ile) rs876657953
NM_004572.3(PKP2):c.819G>A (p.Pro273=) rs3748279
NM_004572.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276
NM_004572.3(PKP2):c.888C>T (p.His296=) rs397517029
NM_004572.3(PKP2):c.918C>T (p.Pro306=) rs368656084
NM_004572.3(PKP2):c.926_928dup (p.Ala309dup) rs869025497
NM_004572.3(PKP2):c.927C>T (p.Ala309=) rs200152448
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.963C>T (p.Val321=) rs202207343
NM_004572.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860
NM_004572.3(PKP2):c.968_971inv (p.Gln323_Ala324delinsArgLeu)
NM_004572.3(PKP2):c.972G>A (p.Ala324=) rs142636176
NM_004572.3(PKP2):c.975C>T (p.Ala325=) rs369921166
NM_004572.3(PKP2):c.978A>G (p.Ala326=) rs775137004
NM_004572.3(PKP2):c.978A>T (p.Ala326=) rs775137004
NM_004572.3(PKP2):c.996G>A (p.Leu332=) rs144574595

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