ClinVar Miner

List of variants in gene PLA2G6 reported by Broad Institute Rare Disease Group, Broad Institute

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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113 0.00019
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His) rs147455037 0.00010
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr) rs141045127 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_003560.4(PLA2G6):c.1058C>T (p.Pro353Leu) rs587784326 0.00004
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp) rs530348521 0.00004
NM_003560.4(PLA2G6):c.116G>A (p.Arg39Gln) rs144910769 0.00003
NM_003560.4(PLA2G6):c.1187-1G>A rs1477656610 0.00003
NM_003560.4(PLA2G6):c.1612C>T (p.Arg538Cys) rs370691849 0.00003
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687 0.00003
NM_003560.4(PLA2G6):c.2287C>T (p.Gln763Ter) rs373493102 0.00003
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) rs587784353 0.00003
NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg) rs121908681 0.00002
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp) rs121908683 0.00002
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His) rs587784349 0.00002
NM_003560.4(PLA2G6):c.2341G>A (p.Ala781Thr) rs139093920 0.00002
NM_003560.4(PLA2G6):c.2356G>A (p.Glu786Lys) rs778705470 0.00002
NM_003560.4(PLA2G6):c.680C>T (p.Ala227Val) rs764957976 0.00002
NC_000022.10:g.38522454delG rs587784329 0.00001
NM_003560.4(PLA2G6):c.1021G>A (p.Ala341Thr) rs769000561 0.00001
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=) rs368497893 0.00001
NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter) rs200075782 0.00001
NM_003560.4(PLA2G6):c.1111G>A (p.Val371Met) rs765156550 0.00001
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090 0.00001
NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln) rs587784330 0.00001
NM_003560.4(PLA2G6):c.1489C>T (p.Leu497Phe) rs587784331 0.00001
NM_003560.4(PLA2G6):c.1532T>C (p.Leu511Pro) rs1356679312 0.00001
NM_003560.4(PLA2G6):c.1591+5G>C rs1064796469 0.00001
NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His) rs535486098 0.00001
NM_003560.4(PLA2G6):c.1627C>T (p.Arg543Cys) rs753874848 0.00001
NM_003560.4(PLA2G6):c.1699G>A (p.Glu567Lys) rs587784337 0.00001
NM_003560.4(PLA2G6):c.1771C>T (p.Arg591Trp) rs1043378899 0.00001
NM_003560.4(PLA2G6):c.1798C>T (p.Arg600Trp) rs368008077 0.00001
NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val) rs201657455 0.00001
NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter) rs587784339 0.00001
NM_003560.4(PLA2G6):c.1912G>A (p.Gly638Arg) rs1000303487 0.00001
NM_003560.4(PLA2G6):c.1957G>A (p.Gly653Ser) rs754204295 0.00001
NM_003560.4(PLA2G6):c.1974C>A (p.Asn658Lys) rs1048444597 0.00001
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys) rs587784347 0.00001
NM_003560.4(PLA2G6):c.2249G>A (p.Cys750Tyr) rs751225193 0.00001
NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr) rs121908685 0.00001
NM_003560.4(PLA2G6):c.848A>G (p.Asp283Gly) rs746405809 0.00001
NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu) rs121908682 0.00001
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His) rs587784363 0.00001
NM_003560.4(PLA2G6):c.1018G>A (p.Gly340Arg)
NM_003560.4(PLA2G6):c.1078-3C>A
NM_003560.4(PLA2G6):c.1097T>A (p.Ile366Asn)
NM_003560.4(PLA2G6):c.1186+1G>A rs761815070
NM_003560.4(PLA2G6):c.127C>T (p.Gln43Ter)
NM_003560.4(PLA2G6):c.1427+2T>C
NM_003560.4(PLA2G6):c.1472T>G (p.Leu491Arg)
NM_003560.4(PLA2G6):c.1547C>T (p.Ala516Val)
NM_003560.4(PLA2G6):c.1549G>T (p.Gly517Cys)
NM_003560.4(PLA2G6):c.1592-2A>C rs1465629909
NM_003560.4(PLA2G6):c.1670C>T (p.Ser557Leu)
NM_003560.4(PLA2G6):c.1674del (p.Leu560fs) rs587784336
NM_003560.4(PLA2G6):c.1765_1768del (p.Ser589fs)
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu) rs1451486649
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) rs387906863
NM_003560.4(PLA2G6):c.1979C>G (p.Pro660Arg) rs547175863
NM_003560.4(PLA2G6):c.1A>G (p.Met1Val)
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter) rs587784346
NM_003560.4(PLA2G6):c.2128del (p.Arg710fs)
NM_003560.4(PLA2G6):c.2202+5G>A rs587784348
NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys)
NM_003560.4(PLA2G6):c.2277-2A>C rs552606315
NM_003560.4(PLA2G6):c.2349G>A (p.Trp783Ter) rs775386225
NM_003560.4(PLA2G6):c.2375A>C (p.His792Pro) rs893021938
NM_003560.4(PLA2G6):c.2389C>T (p.Gln797Ter)
NM_003560.4(PLA2G6):c.278C>A (p.Pro93His)
NM_003560.4(PLA2G6):c.298C>T (p.Gln100Ter) rs1416924105
NM_003560.4(PLA2G6):c.319del (p.Leu107fs) rs776376695
NM_003560.4(PLA2G6):c.380T>C (p.Val127Ala) rs1602184043
NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu) rs776753796
NM_003560.4(PLA2G6):c.719T>C (p.Leu240Pro)
NM_003560.4(PLA2G6):c.729_740del (p.Ala244_Asn247del) rs587784360
NM_003560.4(PLA2G6):c.755del (p.Asn252fs) rs587784361
NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser) rs745643715
NM_003560.4(PLA2G6):c.991G>A (p.Asp331Asn) rs199935023
NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr) rs199935023

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