ClinVar Miner

List of variants reported as pathogenic for Neurodegeneration with brain iron accumulation

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001286611.2(REPS1):c.338C>A (p.Ala113Glu) rs201191394 0.00029
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065 0.00007
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.1634A>G (p.Lys545Arg) rs121908681 0.00002
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp) rs121908683 0.00002
NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg) rs200133991 0.00002
NM_000755.5(CRAT):c.962G>A (p.Arg321His) rs138665095 0.00001
NM_003560.4(PLA2G6):c.1798C>T (p.Arg600Trp) rs368008077 0.00001
NM_024306.5(FA2H):c.460C>T (p.Arg154Cys) rs387907040 0.00001
NM_025233.7(COASY):c.1495C>T (p.Arg499Cys) rs140709867 0.00001
NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg) rs515726205 0.00001
NM_003560.4(PLA2G6):c.1039G>A (p.Gly347Arg) rs1569263730
NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys)
NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter)
NM_025000.4(DCAF17):c.1488_1489del (p.Arg496fs) rs778488574
NM_025233.7(COASY):c.1549_1550del (p.Ser517fs) rs766482965
NM_031448.6(C19orf12):c.161G>A (p.Gly54Glu) rs752450983
NM_031448.6(C19orf12):c.171_181del (p.Gly58fs) rs515726204
NM_031448.6(C19orf12):c.267del (p.Phe89fs)

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