ClinVar Miner

List of variants in gene PLA2G6 studied for Neurodegeneration with brain iron accumulation 2B

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met) rs149653983 0.00029
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.2152G>A (p.Ala718Thr) rs371872005 0.00006
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.2370_2371del (p.Tyr790_Glu791delinsTer) rs587784353 0.00003
NM_003560.4(PLA2G6):c.1506G>C (p.Lys502Asn) rs1555988382 0.00002
NM_003560.4(PLA2G6):c.1061T>C (p.Leu354Pro) rs1403125636 0.00001
NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter) rs200075782 0.00001
NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln) rs587784330 0.00001
NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His) rs535486098 0.00001
NM_003560.4(PLA2G6):c.1933C>T (p.Arg645Ter) rs1484455290 0.00001
NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp) rs587784350 0.00001
NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr) rs121908685 0.00001
NM_003560.4(PLA2G6):c.1028C>A (p.Ala343Glu) rs1162944680
NM_003560.4(PLA2G6):c.1069G>A (p.Ala357Thr) rs2145770192
NM_003560.4(PLA2G6):c.1077+1G>A
NM_003560.4(PLA2G6):c.1125del (p.Val376fs) rs2145753620
NM_003560.4(PLA2G6):c.1349-2A>G rs797045888
NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr) rs121908681
NM_003560.4(PLA2G6):c.1676C>T (p.Pro559Leu) rs2145711085
NM_003560.4(PLA2G6):c.1690del (p.Phe563_Leu564insTer) rs2145711022
NM_003560.4(PLA2G6):c.1742+2T>G rs2087478227
NM_003560.4(PLA2G6):c.1880-9del rs1569243771
NM_003560.4(PLA2G6):c.1976A>G (p.Asn659Ser) rs1555978219
NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del) rs587784343
NM_003560.4(PLA2G6):c.319del (p.Leu107fs) rs776376695
NM_003560.4(PLA2G6):c.370C>T (p.His124Tyr) rs1167264006
NM_003560.4(PLA2G6):c.609+2T>C rs2518055647
NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu) rs776753796
NM_003560.4(PLA2G6):c.790C>T (p.Gln264Ter) rs2518041104
NM_003560.4(PLA2G6):c.945_947dup (p.Ala316dup) rs797045889

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