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: 16
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HGVS dbSNP gnomAD frequency
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944 0.00004
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941 0.00002
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp) rs1064793027 0.00001
NM_000046.5(ARSB):c.1178A>G (p.His393Arg) rs118203944
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.1562G>A (p.Cys521Tyr) rs1554069661
NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp) rs1554069655
NM_000046.5(ARSB):c.323G>T (p.Gly108Val) rs768802200
NM_000046.5(ARSB):c.707T>C (p.Leu236Pro) rs118203940
NM_000046.5(ARSB):c.797A>C (p.Tyr266Ser) rs1554086402
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg) rs779378413
NM_000046.5(ARSB):c.923G>A (p.Gly308Glu) rs1554079333
NM_000046.5(ARSB):c.937C>T (p.Pro313Ser) rs749989641
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg) rs762614315

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