ClinVar Miner

List of variants in gene PLA2G6 reported as pathogenic by OMIM

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Total variants: 15
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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.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.109C>T (p.Arg37Ter) rs200075782 0.00001
NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr) rs121908685 0.00001
NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu) rs121908682 0.00001
NG_007094.1:g.(45669_45717)_(52301_52349)del
NM_003560.4(PLA2G6):c.1354C>T (p.Gln452Ter) rs387906864
NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr) rs121908681
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) rs387906863
NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del) rs587784343
NM_003560.4(PLA2G6):c.216C>A (p.Phe72Leu) rs774631197
NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr) rs199935023

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