ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 21
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HGVS dbSNP gnomAD frequency
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.1487C>T (p.Thr496Ile) rs201085386 0.00042
NM_000487.6(ARSA):c.982G>A (p.Val328Met) rs143994992 0.00022
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) rs74315466 0.00010
NM_000487.6(ARSA):c.225-5C>T rs192013394 0.00006
NM_000487.6(ARSA):c.918G>A (p.Thr306=) rs370250328 0.00006
NM_000487.6(ARSA):c.1107+9G>A rs768146306 0.00003
NM_000487.6(ARSA):c.225-4G>A rs372937480 0.00003
NM_000487.6(ARSA):c.369C>T (p.Ala123=) rs886057657 0.00003
NM_000487.6(ARSA):c.510C>T (p.Cys170=) rs1483727422 0.00002
NM_000487.6(ARSA):c.930C>T (p.Gly310=) rs767751622 0.00002
NM_000487.6(ARSA):c.1211-15T>C rs374150980 0.00001
NM_000487.6(ARSA):c.279C>T (p.Val93=) rs756760904 0.00001
NM_000487.6(ARSA):c.663C>T (p.Phe221=) rs754484249 0.00001
NM_000487.6(ARSA):c.891C>T (p.Ser297=) rs770536697 0.00001
NM_000487.6(ARSA):c.979+8C>T rs746862304 0.00001
NM_000487.6(ARSA):c.1210+13C>T rs6151426
NM_000487.6(ARSA):c.1211-10C>T rs398123413
NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu) rs6151428
NM_000487.6(ARSA):c.276C>T (p.Gly92=) rs978006787

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