ClinVar Miner

List of variants in gene PKP2 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_001005242.3(PKP2):c.*48dup rs369140281 0.00677
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
NM_001005242.3(PKP2):c.1116T>C (p.Ala372=) rs142742483 0.00423
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502 0.00417
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001005242.3(PKP2):c.1171-11T>C rs183414126 0.00239
NM_001005242.3(PKP2):c.939C>T (p.Ser313=) rs61729381 0.00229
NM_001005242.3(PKP2):c.951G>A (p.Ala317=) rs61729382 0.00195
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304 0.00142
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872 0.00049
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser) rs144536197 0.00039
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp) rs370219248 0.00011
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276 0.00010
NM_001005242.3(PKP2):c.1379-2038T>C rs781397552 0.00008
NM_001005242.3(PKP2):c.795G>T (p.Gly265=) rs375268778 0.00007
NM_001005242.3(PKP2):c.1230C>T (p.Asp410=) rs148364390 0.00006
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473 0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_001005242.3(PKP2):c.12C>T (p.Pro4=) rs397516991 0.00004
NM_001005242.3(PKP2):c.1965A>G (p.Gln655=) rs727505293 0.00004
NM_001005242.3(PKP2):c.2019G>A (p.Pro673=) rs147995773 0.00004
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509 0.00004
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn) rs373222905 0.00004
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=) rs368325383 0.00002
NM_001005242.3(PKP2):c.387G>A (p.Gln129=) rs768974835 0.00002
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825 0.00001
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) rs397517012 0.00001
NM_001005242.3(PKP2):c.102C>G (p.Ser34=)
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_001005242.3(PKP2):c.1138G>T (p.Glu380Ter) rs878898365
NM_001005242.3(PKP2):c.1211dup (p.Val406fs) rs397516989
NM_001005242.3(PKP2):c.1263C>T (p.Asn421=) rs2137862862
NM_001005242.3(PKP2):c.1379-2097A>C rs1555144761
NM_001005242.3(PKP2):c.1556+2T>C rs1592746270
NM_001005242.3(PKP2):c.1557-8dup rs200009796
NM_001005242.3(PKP2):c.1593G>T (p.Ala531=) rs760093803
NM_001005242.3(PKP2):c.1903C>T (p.His635Tyr) rs757922359
NM_001005242.3(PKP2):c.192C>T (p.Leu64=) rs768376044
NM_001005242.3(PKP2):c.1A>C (p.Met1Leu) rs794729107
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) rs121434421
NM_001005242.3(PKP2):c.2168-11_2169del
NM_001005242.3(PKP2):c.218dup (p.Asn74fs) rs1257456477
NM_001005242.3(PKP2):c.2247del (p.Ser750fs) rs2137708500
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.369G>A (p.Trp123Ter) rs774663443
NM_001005242.3(PKP2):c.635G>A (p.Arg212His) rs1369618463
NM_001005242.3(PKP2):c.973_976dup (p.Ala326fs)

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