ClinVar Miner

List of variants reported as likely pathogenic for Neurodegeneration with brain iron accumulation 4

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Total variants: 5
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HGVS dbSNP
NM_001256047.1(C19orf12):c.154G>C (p.Ala52Pro) rs376103979
NM_001256047.1(C19orf12):c.172G>A (p.Gly58Arg) rs515726205
NM_001256047.1(C19orf12):c.205C>T (p.Gln69Ter) rs1064797235
NM_001256047.1(C19orf12):c.303G>A (p.Trp101Ter) rs1555714808
NM_001256047.1(C19orf12):c.371dup (p.Met124fs) rs1568326754

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