ClinVar Miner

List of variants in gene ARSA reported by Preventiongenetics, part of Exact Sciences

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.1210+20C>G rs762674 0.76867
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616 0.48362
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_000487.6(ARSA):c.459C>T (p.His153=) rs6151412 0.05937
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys) rs6151415 0.05295
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.636C>T (p.Ala212=) rs200182983 0.00021
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461 0.00001
NM_000487.6(ARSA):c.466-18G>A rs542689643 0.00001
NM_000487.6(ARSA):c.1399C>T (p.Gln467Ter)
NM_000487.6(ARSA):c.1468T>C (p.Cys490Arg) rs755974448

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