ClinVar Miner

Variants in gene ARSB with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944
NM_000046.5(ARSB):c.1213+6T>C rs1554074118
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.1340G>T (p.Cys447Phe) rs1465993279
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs) rs1310996698
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln) rs397514441
NM_000046.5(ARSB):c.288C>G (p.Ser96Arg) rs1554032095
NM_000046.5(ARSB):c.707T>C (p.Leu236Pro) rs118203940
NM_000046.5(ARSB):c.797A>C (p.Tyr266Ser) rs1554086402

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