ClinVar Miner

List of variants in gene PLA2G6 reported as likely pathogenic by GeneDx

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Total variants: 27
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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.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686 0.00009
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp) rs121908683 0.00002
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.1798C>T (p.Arg600Trp) rs368008077 0.00001
NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val) rs201657455 0.00001
NM_003560.4(PLA2G6):c.848A>G (p.Asp283Gly) rs746405809 0.00001
NC_000022.10:g.38511626C>T rs794729212
NM_003560.4(PLA2G6):c.1506G>C (p.Lys502Asn) rs1555988382
NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr) rs121908681
NM_003560.4(PLA2G6):c.1756G>A (p.Gly586Arg)
NM_003560.4(PLA2G6):c.1896_1897dup (p.Ala633fs)
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) rs387906863
NM_003560.4(PLA2G6):c.1951del (p.Leu651fs) rs2145682767
NM_003560.4(PLA2G6):c.1978C>T (p.Pro660Ser) rs587784341
NM_003560.4(PLA2G6):c.1979C>G (p.Pro660Arg) rs547175863
NM_003560.4(PLA2G6):c.217C>T (p.Gln73Ter) rs1556032708
NM_003560.4(PLA2G6):c.2202+1G>A rs2145671289
NM_003560.4(PLA2G6):c.2246G>C (p.Trp749Ser) rs587784351
NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys)
NM_003560.4(PLA2G6):c.2277-2A>C rs552606315
NM_003560.4(PLA2G6):c.298C>T (p.Gln100Ter) rs1416924105
NM_003560.4(PLA2G6):c.404T>C (p.Phe135Ser) rs1057521104
NM_003560.4(PLA2G6):c.967G>A (p.Val323Met)

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