ClinVar Miner

List of variants in gene ARSA studied for not specified

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Total variants: 34
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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.-136C>G rs6151408 0.02754
NM_000487.6(ARSA):c.243C>T (p.Gly81=) rs6151410 0.02425
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.636C>T (p.Ala212=) rs200182983 0.00021
NM_000487.6(ARSA):c.656G>A (p.Arg219His) rs148403406 0.00021
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) rs74315466 0.00010
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys) rs398123419 0.00002
NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys) rs199476370 0.00001
NM_000487.6(ARSA):c.135C>A (p.Ser45Arg) rs375493957 0.00001
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly) rs199476388 0.00001
NM_000487.6(ARSA):c.466-18G>A rs542689643 0.00001
NM_000487.6(ARSA):c.989A>G (p.His330Arg) rs1359332879 0.00001
NM_000487.6(ARSA):c.1198T>G (p.Phe400Val)
NM_000487.6(ARSA):c.1279C>T (p.Pro427Ser)
NM_000487.6(ARSA):c.1528T>C (p.Ter510Arg)
NM_000487.6(ARSA):c.218C>T (p.Pro73Leu)
NM_000487.6(ARSA):c.465G>A (p.Gln155=) rs199476377
NM_000487.6(ARSA):c.466G>C (p.Gly156Arg)
NM_000487.6(ARSA):c.495G>A (p.Pro165=) rs145299072
NM_000487.6(ARSA):c.495G>T (p.Pro165=) rs145299072
NM_000487.6(ARSA):c.565G>A (p.Val189Met)
NM_000487.6(ARSA):c.697C>A (p.Pro233Thr) rs74315469
NM_000487.6(ARSA):c.731C>T (p.Ser244Leu)
NM_000487.6(ARSA):c.737G>T (p.Arg246Leu)
NM_000487.6(ARSA):c.869G>T (p.Arg290Leu)

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