ClinVar Miner

List of variants in gene ARSB reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 23
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HGVS dbSNP
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757
NM_000046.5(ARSB):c.1078C>T (p.Leu360=) rs140923667
NM_000046.5(ARSB):c.1126G>A (p.Val376Met) rs1071598
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn) rs25414
NM_000046.5(ARSB):c.1159C>T (p.Pro387Ser) rs145553034
NM_000046.5(ARSB):c.118_134del (p.Gly40fs) rs398123123
NM_000046.5(ARSB):c.1191G>A (p.Pro397=) rs25413
NM_000046.5(ARSB):c.1197C>T (p.Phe399=) rs200793396
NM_000046.5(ARSB):c.1214-32T>C rs7721866
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) rs555785323
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167
NM_000046.5(ARSB):c.185T>A (p.Phe62Tyr) rs779228581
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln) rs118203942
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp) rs991104525
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943
NM_000046.5(ARSB):c.899-10T>G rs727503810
NM_000046.5(ARSB):c.934T>C (p.Trp312Arg) rs398123124
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125
NM_000046.5(ARSB):c.972A>G (p.Gly324=) rs72762973
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448

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