ClinVar Miner

List of variants in gene PKP2 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.1379-2109G>A rs139159464 0.00050
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_001005242.3(PKP2):c.1379-2025G>A rs537458442 0.00023
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) rs199583774 0.00016
NM_001005242.3(PKP2):c.336+17T>G rs185681814 0.00016
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp) rs370219248 0.00011
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn) rs200947767 0.00009
NM_001005242.3(PKP2):c.194C>T (p.Ala65Val) rs139924723 0.00008
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999 0.00006
NM_001005242.3(PKP2):c.1379-2072C>T rs758950276 0.00005
NM_001005242.3(PKP2):c.1809T>G (p.Cys603Trp) rs767935208 0.00005
NM_001005242.3(PKP2):c.895C>T (p.Arg299Cys) rs564987195 0.00005
NM_001005242.3(PKP2):c.1379-2102C>G rs762631031 0.00004
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn) rs373222905 0.00004
NM_001005242.3(PKP2):c.611G>A (p.Arg204His) rs755215178 0.00003
NM_001005242.3(PKP2):c.1379-1972G>A rs779392697 0.00002
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr) rs727503373 0.00002
NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu) rs746530389 0.00002
NM_001005242.3(PKP2):c.1129A>G (p.Ile377Val) rs1565596114 0.00001
NM_001005242.3(PKP2):c.1231G>A (p.Val411Ile) rs192041220 0.00001
NM_001005242.3(PKP2):c.1574G>A (p.Gly525Asp) rs898915439 0.00001
NM_001005242.3(PKP2):c.1985T>C (p.Leu662Pro) rs878854709 0.00001
NM_001005242.3(PKP2):c.224G>A (p.Gly75Glu) rs267603443 0.00001
NM_001005242.3(PKP2):c.746G>A (p.Ser249Asn) rs1085307949 0.00001
NM_001005242.3(PKP2):c.934T>G (p.Ser312Ala) rs756604557 0.00001
NM_001005242.3(PKP2):c.-9_12dup (p.Pro4_Gly5insThrGlyProMetAlaAlaPro) rs770443705
NM_001005242.3(PKP2):c.1081G>A (p.Glu361Lys)
NM_001005242.3(PKP2):c.1114G>A (p.Ala372Thr) rs200586695
NM_001005242.3(PKP2):c.1379-1966del rs1555144717
NM_001005242.3(PKP2):c.1379-1985A>G rs1193122924
NM_001005242.3(PKP2):c.1928T>G (p.Leu643Arg) rs794729113
NM_001005242.3(PKP2):c.2013A>G (p.Pro671=) rs1956373944
NM_001005242.3(PKP2):c.2168-4G>C rs376231586
NM_001005242.3(PKP2):c.2168-8T>C rs1565572439
NM_001005242.3(PKP2):c.2182C>T (p.Pro728Ser)
NM_001005242.3(PKP2):c.2183C>T (p.Pro728Leu)
NM_001005242.3(PKP2):c.2408T>C (p.Leu803Pro) rs1064794215
NM_001005242.3(PKP2):c.337-9C>A rs781357829
NM_001005242.3(PKP2):c.457G>A (p.Asp153Asn) rs747856983

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