ClinVar Miner

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

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Total variants: 18
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HGVS dbSNP gnomAD frequency
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.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp) rs530348521 0.00004
NM_003560.4(PLA2G6):c.2287C>T (p.Gln763Ter) rs373493102 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.680C>T (p.Ala227Val) rs764957976 0.00002
NM_003560.4(PLA2G6):c.1798C>T (p.Arg600Trp) rs368008077 0.00001
NM_003560.4(PLA2G6):c.1039G>A (p.Gly347Arg) rs1569263730
NM_003560.4(PLA2G6):c.1294del (p.His432fs)
NM_003560.4(PLA2G6):c.1427+1G>C rs750939090
NM_003560.4(PLA2G6):c.1743-2A>G
NM_003560.4(PLA2G6):c.1911del (p.Ser637fs) rs730882214
NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del) rs587784343
NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys)
NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu) rs776753796
NM_003560.4(PLA2G6):c.729_740del (p.Ala244_Asn247del) rs587784360

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