ClinVar Miner

List of variants in gene ARSB reported as pathogenic by Invitae

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Gene type:
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Total variants: 42
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HGVS dbSNP
NC_000005.10:g.(?_78885574)_(78885837_?)del
NC_000005.10:g.(?_78964406)_(78969202_?)del
NC_000005.9:g.(?_78111899)_(78135259_?)del
NC_000005.9:g.(?_78260219)_(78265035_?)del
NC_000005.9:g.(?_78280740)_(78281091_?)del
NM_000046.5(ARSB):c.1036G>T (p.Glu346Ter)
NM_000046.5(ARSB):c.103_118del (p.Pro35fs)
NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter) rs1554079265
NM_000046.5(ARSB):c.113del (p.Gly38fs)
NM_000046.5(ARSB):c.1143-1G>C rs431905495
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu) rs200793396
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941
NM_000046.5(ARSB):c.121dup (p.Ala41fs)
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter)
NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe) rs1465993279
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) rs555785323
NM_000046.5(ARSB):c.1419G>A (p.Trp473Ter)
NM_000046.5(ARSB):c.1558del (p.Arg520fs)
NM_000046.5(ARSB):c.1577del (p.Thr526fs) rs1554069660
NM_000046.5(ARSB):c.170G>A (p.Trp57Ter)
NM_000046.5(ARSB):c.173del (p.Asn58fs)
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.310C>T (p.Gln104Ter)
NM_000046.5(ARSB):c.385del (p.Leu129fs)
NM_000046.5(ARSB):c.427del (p.Val143fs) rs766914147
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg) rs746206847
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter) rs757061042
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp) rs991104525
NM_000046.5(ARSB):c.468del (p.Pro157fs)
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln) rs1196325597
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter) rs371886102
NM_000046.5(ARSB):c.574T>C (p.Cys192Arg) rs1554087423
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943
NM_000046.5(ARSB):c.707T>C (p.Leu236Pro) rs118203940
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) rs765711776
NM_000046.5(ARSB):c.797A>C (p.Tyr266Ser) rs1554086402
NM_000046.5(ARSB):c.823G>T (p.Glu275Ter) rs1580121683
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala) rs749989641
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809
NM_000046.5(ARSB):c.966G>A (p.Trp322Ter) rs1554079318

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