ClinVar Miner

List of variants in gene PLA2G6 reported as pathogenic for not provided

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686 0.00009
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp) rs530348521 0.00004
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687 0.00003
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) rs587784353 0.00003
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp) rs121908683 0.00002
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His) rs587784349 0.00002
NC_000022.10:g.38522454delG rs587784329 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.1427+1G>A rs750939090 0.00001
NM_003560.4(PLA2G6):c.1627C>T (p.Arg543Cys) rs753874848 0.00001
NM_003560.4(PLA2G6):c.1771C>T (p.Arg591Trp) rs1043378899 0.00001
NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter) rs587784339 0.00001
NM_003560.4(PLA2G6):c.208C>T (p.Arg70Ter) rs886039552 0.00001
NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr) rs121908685 0.00001
NM_003560.4(PLA2G6):c.1186+1G>A rs761815070
NM_003560.4(PLA2G6):c.1186+1G>T
NM_003560.4(PLA2G6):c.1501G>A (p.Glu501Lys) rs587784332
NM_003560.4(PLA2G6):c.1648del (p.Arg550fs)
NM_003560.4(PLA2G6):c.1772G>A (p.Arg591Gln) rs776713955
NM_003560.4(PLA2G6):c.1915del (p.Ala639fs)
NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del) rs587784343
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter) rs587784346
NM_003560.4(PLA2G6):c.2251G>T (p.Glu751Ter) rs1296348337
NM_003560.4(PLA2G6):c.2276+1G>A rs1397030516
NM_003560.4(PLA2G6):c.2349G>A (p.Trp783Ter) rs775386225
NM_003560.4(PLA2G6):c.319del (p.Leu107fs) rs776376695
NM_003560.4(PLA2G6):c.643C>T (p.Gln215Ter) rs2088813126
NM_003560.4(PLA2G6):c.671T>C (p.Leu224Pro) rs2145803751
NM_003560.4(PLA2G6):c.673C>T (p.His225Tyr) rs587784359
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.857_858del (p.Tyr286fs) rs2145780100
NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr) rs199935023

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