ClinVar Miner

List of variants studied for Arrhythmogenic right ventricular dysplasia 9 by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 74
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.*202C>T rs77988382 0.00472
NM_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997 0.00092
NM_001005242.3(PKP2):c.1379-2109G>A rs139159464 0.00050
NM_001005242.3(PKP2):c.*330A>G rs375759731 0.00023
NM_001005242.3(PKP2):c.928G>A (p.Val310Met) rs768396351 0.00017
NM_001005242.3(PKP2):c.176A>T (p.Gln59Leu) rs730880179 0.00016
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) rs199583774 0.00016
NM_001005242.3(PKP2):c.307C>A (p.Pro103Thr) rs139215336 0.00016
NM_001005242.3(PKP2):c.336+17T>G rs185681814 0.00016
NM_001005242.3(PKP2):c.805G>A (p.Gly269Arg) rs757285245 0.00015
NM_001005242.3(PKP2):c.1379-2018G>A rs369518480 0.00013
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn) rs200947767 0.00009
NM_001005242.3(PKP2):c.1190T>A (p.Ile397Asn) rs772334698 0.00006
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_001005242.3(PKP2):c.1379-2022G>A rs111450489 0.00004
NM_001005242.3(PKP2):c.1576G>A (p.Ala526Thr) rs558637427 0.00004
NM_001005242.3(PKP2):c.2480G>A (p.Arg827Gln) rs372263407 0.00004
NM_001005242.3(PKP2):c.364C>T (p.Arg122Cys) rs759377911 0.00004
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn) rs373222905 0.00004
NM_001005242.3(PKP2):c.1519G>A (p.Asp507Asn) rs763427502 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001005242.3(PKP2):c.259G>C (p.Val87Leu) rs750028032 0.00003
NM_001005242.3(PKP2):c.1379-2071G>A rs776244945 0.00002
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672 0.00002
NM_001005242.3(PKP2):c.2140C>T (p.Arg714Trp) rs537046857 0.00002
NM_001005242.3(PKP2):c.2316C>T (p.Thr772=) rs369837002 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.1138G>A (p.Glu380Lys) rs878898365 0.00001
NM_001005242.3(PKP2):c.1163G>A (p.Arg388Gln) rs756000218 0.00001
NM_001005242.3(PKP2):c.1292T>C (p.Leu431Ser) rs143397927 0.00001
NM_001005242.3(PKP2):c.1367A>C (p.Lys456Thr) rs750897570 0.00001
NM_001005242.3(PKP2):c.1379-2A>T rs1453983744 0.00001
NM_001005242.3(PKP2):c.1394T>C (p.Leu465Ser) rs374163198 0.00001
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825 0.00001
NM_001005242.3(PKP2):c.1772G>A (p.Arg591Gln) rs755076586 0.00001
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) rs397517012 0.00001
NM_001005242.3(PKP2):c.1794C>A (p.Asn598Lys) rs727503370 0.00001
NM_001005242.3(PKP2):c.1916T>C (p.Ile639Thr) rs1956376395 0.00001
NM_001005242.3(PKP2):c.1939G>A (p.Ala647Thr) rs759920696 0.00001
NM_001005242.3(PKP2):c.2317G>A (p.Gly773Arg) rs766775778 0.00001
NM_001005242.3(PKP2):c.2428C>T (p.His810Tyr) rs397517023 0.00001
NM_001005242.3(PKP2):c.484A>G (p.Thr162Ala) rs765195368 0.00001
NM_001005242.3(PKP2):c.533dup (p.His179fs) rs769220833 0.00001
NM_001005242.3(PKP2):c.536A>G (p.His179Arg) rs1371222715 0.00001
NM_001005242.3(PKP2):c.554G>A (p.Arg185Gln) rs765477952 0.00001
NM_001005242.3(PKP2):c.688G>A (p.Val230Ile) rs543281875 0.00001
NM_001005242.3(PKP2):c.713C>T (p.Pro238Leu) rs560220280 0.00001
NM_001005242.3(PKP2):c.784C>A (p.Leu262Met) rs199701968 0.00001
NM_001005242.3(PKP2):c.*252A>G rs886049316
NM_001005242.3(PKP2):c.-9_12dup (p.Pro4_Gly5insThrGlyProMetAlaAlaPro) rs770443705
NM_001005242.3(PKP2):c.1177C>T (p.Gln393Ter) rs786204393
NM_001005242.3(PKP2):c.1294G>C (p.Glu432Gln) rs1956689490
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.3(PKP2):c.1532del (p.Phe511fs) rs794729127
NM_001005242.3(PKP2):c.1644A>T (p.Gly548=) rs1555143127
NM_001005242.3(PKP2):c.1744T>A (p.Tyr582Asn) rs794729112
NM_001005242.3(PKP2):c.1748C>T (p.Ser583Phe) rs769817013
NM_001005242.3(PKP2):c.1997C>T (p.Thr666Met) rs397517016
NM_001005242.3(PKP2):c.2023_2024delinsCT (p.Ser675Leu) rs1956192621
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001005242.3(PKP2):c.2113_2114delinsAT (p.Ala705Ile) rs1565574704
NM_001005242.3(PKP2):c.2168-1G>A rs1060501184
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs) rs1064794350
NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg) rs794729098
NM_001005242.3(PKP2):c.2299C>T (p.Arg767Cys) rs139734328
NM_001005242.3(PKP2):c.2321G>T (p.Gly774Val) rs1192534020
NM_001005242.3(PKP2):c.369G>A (p.Trp123Ter) rs774663443
NM_001005242.3(PKP2):c.497_498del (p.Tyr166fs)
NM_001005242.3(PKP2):c.746G>T (p.Ser249Ile) rs1085307949
NM_001005242.3(PKP2):c.749G>T (p.Arg250Leu) rs369332786
NM_001005242.3(PKP2):c.968_971inv (p.Gln323_Ala324delinsArgLeu)
NM_001005242.3(PKP2):c.980G>T (p.Gly327Val) rs759660796

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.