ClinVar Miner

List of variants in gene ARSA reported by UniProtKB/Swiss-Prot

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Gene type:
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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355 0.00011
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) rs199476391 0.00004
NM_000487.6(ARSA):c.925G>A (p.Glu309Lys) rs199476360 0.00004
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu) rs74315464 0.00003
NM_000487.6(ARSA):c.1292A>C (p.Tyr431Ser) rs199476380 0.00002
NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys) rs199476370 0.00001
NM_000487.6(ARSA):c.1195C>T (p.His399Tyr) rs199476376 0.00001
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly) rs199476388 0.00001
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp) rs199476352 0.00001
NM_000487.6(ARSA):c.577C>A (p.Pro193Thr) rs199476374 0.00001
NM_000487.6(ARSA):c.608A>G (p.Tyr203Cys) rs199476345 0.00001
NM_000487.6(ARSA):c.685C>T (p.His229Tyr) rs199476354 0.00001
NM_000487.6(ARSA):c.737G>A (p.Arg246His) rs199476366 0.00001
NM_000487.6(ARSA):c.746T>C (p.Phe249Ser) rs199476384 0.00001
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr) rs199476386 0.00001
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349 0.00001
NM_000487.6(ARSA):c.887G>A (p.Cys296Tyr) rs199476347 0.00001
NM_000487.6(ARSA):c.912G>C (p.Lys304Asn) rs199476343 0.00001
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln) rs199476382 0.00001
NM_000487.6(ARSA):c.100G>A (p.Gly34Ser) rs199476350
NM_000487.6(ARSA):c.1107G>C (p.Lys369Asn) rs199476369
NM_000487.6(ARSA):c.1132T>A (p.Tyr378Asn) rs199476344
NM_000487.6(ARSA):c.1149C>G (p.Asp383Glu) rs6151425
NM_000487.6(ARSA):c.1222A>G (p.Ser408Gly) rs199476361
NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro) rs199476392
NM_000487.6(ARSA):c.1412C>G (p.Ala471Gly) rs199476385
NM_000487.6(ARSA):c.161T>C (p.Leu54Pro) rs199476357
NM_000487.6(ARSA):c.209T>C (p.Leu70Pro) rs199476351
NM_000487.6(ARSA):c.233T>C (p.Leu78Pro) rs199476362
NM_000487.6(ARSA):c.286C>G (p.Pro96Ala) rs199476353
NM_000487.6(ARSA):c.290G>A (p.Ser97Asn) rs199476363
NM_000487.6(ARSA):c.292_293delinsCT (p.Ser98Leu) rs199476371
NM_000487.6(ARSA):c.302G>T (p.Gly101Val) rs74315455
NM_000487.6(ARSA):c.361G>A (p.Gly121Arg) rs199476364
NM_000487.6(ARSA):c.412C>T (p.Pro138Ser) rs60504011
NM_000487.6(ARSA):c.418C>G (p.His140Asp) rs199476358
NM_000487.6(ARSA):c.433C>G (p.Arg145Gly) rs199476373
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu) rs199476375
NM_000487.6(ARSA):c.460G>T (p.Asp154Tyr) rs199476365
NM_000487.6(ARSA):c.465G>C (p.Gln155His) rs199476377
NM_000487.6(ARSA):c.472T>C (p.Cys158Arg) rs199476348
NM_000487.6(ARSA):c.521G>A (p.Cys174Tyr) rs199476381
NM_000487.6(ARSA):c.548T>A (p.Leu183Gln) rs199476378
NM_000487.6(ARSA):c.576G>C (p.Gln192His) rs199476372
NM_000487.6(ARSA):c.59C>A (p.Ala20Asp) rs199476339
NM_000487.6(ARSA):c.640G>C (p.Ala214Pro) rs199476341
NM_000487.6(ARSA):c.661T>G (p.Phe221Val) rs199476383
NM_000487.6(ARSA):c.755C>A (p.Ser252Tyr) rs199476367
NM_000487.6(ARSA):c.851A>G (p.Asn284Ser) rs199476342
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp) rs199476387
NM_000487.6(ARSA):c.899T>C (p.Leu300Ser) rs199476389
NM_000487.6(ARSA):c.905G>T (p.Cys302Phe) rs74315484
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.91G>A (p.Asp31Asn) rs199476346
NM_000487.6(ARSA):c.922T>C (p.Tyr308His) rs199476379
NM_000487.6(ARSA):c.929G>A (p.Gly310Asp) rs199476356
NM_000487.6(ARSA):c.929G>T (p.Gly310Val) rs199476356
NM_000487.6(ARSA):c.942G>T (p.Glu314Asp) rs199476390
NM_000487.6(ARSA):c.946G>A (p.Ala316Thr) rs199476368
NM_000487.6(ARSA):c.94G>C (p.Asp32His) rs199476340

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