ClinVar Miner

List of variants in gene PKP2 reported as likely benign by GeneDx

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Gene type:
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Total variants: 70
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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+136A>G
NM_004572.3(PKP2):c.1035-197C>A
NM_004572.3(PKP2):c.1035-9T>C rs1057522716
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.1114G>C (p.Ala372Pro) rs200586695
NM_004572.3(PKP2):c.1170+258G>T
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.1378+152G>T
NM_004572.3(PKP2):c.1378+18T>C rs374266697
NM_004572.3(PKP2):c.1433C>T (p.Ala478Val) rs144620127
NM_004572.3(PKP2):c.1468C>T (p.Arg490Trp) rs149930872
NM_004572.3(PKP2):c.1511-5T>C rs189036647
NM_004572.3(PKP2):c.1550A>G (p.Asn517Ser) rs144536197
NM_004572.3(PKP2):c.1584G>A (p.Thr528=) rs727504098
NM_004572.3(PKP2):c.1617T>C (p.Pro539=)
NM_004572.3(PKP2):c.1636G>A (p.Ala546Thr) rs368740836
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.1707C>T (p.Gly569=) rs780049494
NM_004572.3(PKP2):c.1756C>T (p.Leu586=) rs397517007
NM_004572.3(PKP2):c.1806+13A>C rs768698663
NM_004572.3(PKP2):c.1806+9A>C
NM_004572.3(PKP2):c.1971+84C>G
NM_004572.3(PKP2):c.1972-298T>A
NM_004572.3(PKP2):c.1995G>A (p.Pro665=) rs146144731
NM_004572.3(PKP2):c.2097A>G (p.Gln699=) rs727505293
NM_004572.3(PKP2):c.2133C>T (p.Ala711=) rs529442984
NM_004572.3(PKP2):c.2146-19G>A rs1555141646
NM_004572.3(PKP2):c.2146-7A>G rs1555141645
NM_004572.3(PKP2):c.2160G>A (p.Val720=)
NM_004572.3(PKP2):c.224-18A>T rs370733920
NM_004572.3(PKP2):c.2299+67C>T
NM_004572.3(PKP2):c.2300-19T>A rs527736735
NM_004572.3(PKP2):c.2300-233G>A
NM_004572.3(PKP2):c.2365A>G (p.Ile789Val) rs551045165
NM_004572.3(PKP2):c.2448C>T (p.Thr816=) rs369837002
NM_004572.3(PKP2):c.2485G>A (p.Asp829Asn) rs151264959
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.2553G>A (p.Thr851=) rs199900632
NM_004572.3(PKP2):c.2578-9A>T rs1057524088
NM_004572.3(PKP2):c.306C>A (p.Ser102=) rs376613662
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.504C>T (p.Tyr168=) rs1057520930
NM_004572.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_004572.3(PKP2):c.558C>T (p.Ala186=) rs184522105
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.795G>T (p.Gly265=) rs375268778
NM_004572.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276
NM_004572.3(PKP2):c.918C>T (p.Pro306=) rs368656084
NM_004572.3(PKP2):c.939C>T (p.Ser313=) rs61729381
NM_004572.3(PKP2):c.963C>T (p.Val321=) rs202207343
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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