ClinVar Miner

List of variants in gene ARSB reported as uncertain significance by Invitae

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Total variants: 8
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HGVS dbSNP
NM_000046.5(ARSB):c.1048A>G (p.Ile350Val) rs79970603
NM_000046.5(ARSB):c.1258C>G (p.Pro420Ala)
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1502G>A (p.Arg501His) rs190643827
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr) rs146704780
NM_000046.5(ARSB):c.550A>G (p.Ile184Val) rs371812342
NM_000046.5(ARSB):c.647C>T (p.Thr216Ile) rs200364654
NM_000046.5(ARSB):c.91_93TTG[1] (p.Leu32del)

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