ClinVar Miner

List of variants in gene ARSB reported by Invitae

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Total variants: 21
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HGVS dbSNP
NC_000005.9:g.(?_78181397)_(78181660_?)dup
NM_000046.5(ARSB):c.1048A>G (p.Ile350Val) rs79970603
NM_000046.5(ARSB):c.1068A>T (p.Thr356=) rs16876029
NM_000046.5(ARSB):c.1258C>G (p.Pro420Ala)
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe) rs1465993279
NM_000046.5(ARSB):c.1438dup (p.Asp480fs)
NM_000046.5(ARSB):c.1446A>G (p.Glu482=) rs35714924
NM_000046.5(ARSB):c.1502G>A (p.Arg501His) rs190643827
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr) rs146704780
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp) rs991104525
NM_000046.5(ARSB):c.456G>T (p.Arg152=) rs140747158
NM_000046.5(ARSB):c.550A>G (p.Ile184Val) rs371812342
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter) rs371886102
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943
NM_000046.5(ARSB):c.647C>T (p.Thr216Ile) rs200364654
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) rs765711776
NM_000046.5(ARSB):c.823G>T (p.Glu275Ter)
NM_000046.5(ARSB):c.91_93TTG[1] (p.Leu32del)
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125

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