ClinVar Miner

Variants in gene ARSA with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428 0.04709
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425 0.04013
NM_000487.6(ARSA):c.624T>C (p.His208=) rs113990230 0.01000
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229 0.00358
NM_000487.6(ARSA):c.466-7G>C rs6151414 0.00294
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371 0.00245
NM_000487.6(ARSA):c.982G>A (p.Val328Met) rs143994992 0.00022
NM_000487.6(ARSA):c.636C>T (p.Ala212=) rs200182983 0.00021
NM_000487.6(ARSA):c.972C>T (p.Ile324=) rs200567315 0.00011
NM_000487.6(ARSA):c.558C>T (p.Asn186=) rs574416131 0.00001
NM_000487.6(ARSA):c.495G>A (p.Pro165=) rs145299072
NM_000487.6(ARSA):c.530G>A (p.Gly177Asp) rs556812341

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