ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 5
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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.113_121del (p.Gly38_Gly40del) rs550086186
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718

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