ClinVar Miner

List of variants in gene ARSA reported as uncertain significance for not provided

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.466-7G>C rs6151414 0.00294
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371 0.00245
NM_000487.6(ARSA):c.-224C>G rs546035074 0.00197
NM_000487.6(ARSA):c.1325A>G (p.Asn442Ser) rs6151427 0.00096
NM_000487.6(ARSA):c.1487C>T (p.Thr496Ile) rs201085386 0.00042
NM_000487.6(ARSA):c.982G>A (p.Val328Met) rs143994992 0.00022
NM_000487.6(ARSA):c.656G>A (p.Arg219His) rs148403406 0.00021
NM_000487.6(ARSA):c.605G>A (p.Arg202His) rs201794808 0.00019
NM_000487.6(ARSA):c.14C>T (p.Ala5Val) rs201315540 0.00018
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) rs74315466 0.00010
NM_000487.6(ARSA):c.1334G>T (p.Gly445Val) rs540762357 0.00007
NM_000487.6(ARSA):c.637G>A (p.Asp213Asn) rs369786038 0.00006
NM_000487.6(ARSA):c.918G>A (p.Thr306=) rs370250328 0.00006
NM_000487.6(ARSA):c.325G>A (p.Val109Met) rs746259972 0.00004
NM_000487.6(ARSA):c.1442G>A (p.Arg481Gln) rs776116011 0.00003
NM_000487.6(ARSA):c.1444G>A (p.Gly482Ser) rs377717242 0.00003
NM_000487.6(ARSA):c.229G>T (p.Ala77Ser) rs763880042 0.00003
NM_000487.6(ARSA):c.677C>T (p.Ala226Val) rs74315468 0.00003
NM_000487.6(ARSA):c.604C>T (p.Arg202Cys) rs374482942 0.00002
NM_000487.6(ARSA):c.930C>T (p.Gly310=) rs767751622 0.00002
NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys) rs199476370 0.00001
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) rs74315480 0.00001
NM_000487.6(ARSA):c.131C>T (p.Pro44Leu) rs1340814173 0.00001
NM_000487.6(ARSA):c.135C>A (p.Ser45Arg) rs375493957 0.00001
NM_000487.6(ARSA):c.350G>A (p.Gly117Asp) rs1433109241 0.00001
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461 0.00001
NM_000487.6(ARSA):c.610A>G (p.Met204Val) rs1569080377 0.00001
NM_000487.6(ARSA):c.640G>A (p.Ala214Thr) rs199476341 0.00001
NM_000487.6(ARSA):c.799A>G (p.Ile267Val) rs769099985 0.00001
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr) rs199476386 0.00001
NM_000487.6(ARSA):c.*1206G>T rs867069706
NM_000487.6(ARSA):c.*1238T>G rs6010033
NM_000487.6(ARSA):c.1033C>G (p.Leu345Val)
NM_000487.6(ARSA):c.1079T>C (p.Leu360Pro) rs2082658031
NM_000487.6(ARSA):c.1115G>C (p.Arg372Pro) rs74315477
NM_000487.6(ARSA):c.1211-10C>T rs398123413
NM_000487.6(ARSA):c.1348G>A (p.Ala450Thr) rs2146716261
NM_000487.6(ARSA):c.1471T>C (p.Cys491Arg) rs199476388
NM_000487.6(ARSA):c.1486A>C (p.Thr496Pro) rs1196939207
NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu) rs6151428
NM_000487.6(ARSA):c.179G>C (p.Arg60Pro) rs750005732
NM_000487.6(ARSA):c.225-5C>G rs192013394
NM_000487.6(ARSA):c.329C>T (p.Ala110Val) rs1191014984
NM_000487.6(ARSA):c.369_374delinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly) rs786200965
NM_000487.6(ARSA):c.392G>A (p.Gly131Glu) rs1336260427
NM_000487.6(ARSA):c.465G>A (p.Gln155=) rs199476377
NM_000487.6(ARSA):c.466-3C>G
NM_000487.6(ARSA):c.685-3del
NM_000487.6(ARSA):c.685-7C>A rs398123417
NM_000487.6(ARSA):c.854+3A>G rs1057524566
NM_000487.6(ARSA):c.854+5G>T rs886043370
NM_000487.6(ARSA):c.854+82G>A
NM_000487.6(ARSA):c.901C>G (p.Arg301Gly) rs794727704
NM_000487.6(ARSA):c.932G>A (p.Gly311Asp) rs886042812

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