ClinVar Miner

List of variants in gene ARSA reported as uncertain significance by Counsyl

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Gene type:
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Total variants: 25
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HGVS dbSNP
NM_000487.6(ARSA):c.-15A>G rs909454884
NM_000487.6(ARSA):c.-35_-8del rs759081183
NM_000487.6(ARSA):c.109_126dup (p.Asp37_Gly42dup) rs1555901139
NM_000487.6(ARSA):c.1108-3C>G rs1001100248
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln) rs74315477
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) rs199476391
NM_000487.6(ARSA):c.1195C>T (p.His399Tyr) rs199476376
NM_000487.6(ARSA):c.135C>A (p.Ser45Arg) rs375493957
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly) rs199476388
NM_000487.6(ARSA):c.1490_1492del (p.Pro497del) rs774153480
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu) rs6151411
NM_000487.6(ARSA):c.257G>T (p.Arg86Leu) rs74315458
NM_000487.6(ARSA):c.398_409del (p.Glu133_Leu137delinsVal) rs1555901024
NM_000487.6(ARSA):c.413C>T (p.Pro138Leu) rs74315462
NM_000487.6(ARSA):c.418C>G (p.His140Asp) rs199476358
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) rs74315466
NM_000487.6(ARSA):c.514G>A (p.Gly172Ser) rs74315271
NM_000487.6(ARSA):c.604C>T (p.Arg202Cys) rs374482942
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys) rs527640350
NM_000487.6(ARSA):c.684+2dup rs1555900843
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr) rs199476386
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.922T>C (p.Tyr308His) rs199476379
NM_000487.6(ARSA):c.946G>A (p.Ala316Thr) rs199476368
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys) rs398123419

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