ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.434G>A (p.Arg145Gln) rs551548107 0.00011
NM_000487.6(ARSA):c.677C>T (p.Ala226Val) rs74315468 0.00003
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu) rs6151411 0.00002
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461 0.00001
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys) rs527640350 0.00001
NM_000487.6(ARSA):c.1108-3C>G rs1001100248
NM_000487.6(ARSA):c.1177_1178delinsGG (p.Thr393Gly) rs2146717703
NM_000487.6(ARSA):c.1200C>T (p.Phe400=) rs1175674325
NM_000487.6(ARSA):c.418C>G (p.His140Asp) rs199476358
NM_000487.6(ARSA):c.421C>T (p.Gln141Ter) rs1057516730
NM_000487.6(ARSA):c.937C>G (p.Arg313Gly) rs551472773
NM_000487.6(ARSA):c.942G>T (p.Glu314Asp) rs199476390

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