ClinVar Miner

List of variants in gene ARSA reported as pathogenic for Metachromatic leukodystrophy

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Total variants: 89
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HGVS dbSNP
ARSA, 1-BP DEL, 297C
NC_000022.11:g.(?_50625125)_(50627799_?)del
NC_000022.11:g.50627051del
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000487.6(ARSA):c.1007T>C (p.Leu336Pro)
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475
NM_000487.6(ARSA):c.1046del (p.Pro349fs) rs1603444908
NM_000487.6(ARSA):c.1079T>C (p.Leu360Pro)
NM_000487.6(ARSA):c.1087dup (p.Leu363fs)
NM_000487.6(ARSA):c.109_116del (p.Asp37fs) rs753415648
NM_000487.6(ARSA):c.1108-2A>G rs398123411
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.6(ARSA):c.1123_1126del (p.Leu375fs)
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) rs74315479
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) rs74315480
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.1198_1200TTC[1] (p.Phe401del) rs1569077723
NM_000487.6(ARSA):c.1210+1G>A rs80338820
NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del) rs765905826
NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile) rs74315481
NM_000487.6(ARSA):c.1274A>G (p.His425Arg) rs1135401757
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893
NM_000487.6(ARSA):c.1344dup (p.Gly449fs) rs761555167
NM_000487.6(ARSA):c.1366C>T (p.Gln456Ter)
NM_000487.6(ARSA):c.1378C>T (p.Gln460Ter)
NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs) rs80338823
NM_000487.6(ARSA):c.1492dup (p.Arg498fs) rs774153480
NM_000487.6(ARSA):c.157C>T (p.Gln53Ter) rs1603445026
NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer) rs398123414
NM_000487.6(ARSA):c.200del (p.Pro67fs)
NM_000487.6(ARSA):c.229G>C (p.Ala77Pro) rs763880042
NM_000487.6(ARSA):c.240dup (p.Gly81fs) rs786204599
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp) rs199476352
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs1603445003
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.6(ARSA):c.302G>T (p.Gly101Val) rs74315455
NM_000487.6(ARSA):c.302dup (p.Leu102fs)
NM_000487.6(ARSA):c.304del (p.Leu102fs) rs786204673
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461
NM_000487.6(ARSA):c.371G>A (p.Gly124Asp)
NM_000487.6(ARSA):c.433C>T (p.Arg145Ter)
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu) rs199476375
NM_000487.6(ARSA):c.451dup (p.Tyr151fs)
NM_000487.6(ARSA):c.465+1G>A rs80338815
NM_000487.6(ARSA):c.467G>A (p.Gly156Asp) rs74315463
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter) rs768028181
NM_000487.6(ARSA):c.495_501del (p.Pro166fs) rs1057517429
NM_000487.6(ARSA):c.506C>G (p.Pro169Arg) rs74315465
NM_000487.6(ARSA):c.526C>T (p.Gln176Ter) rs762284875
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457
NM_000487.6(ARSA):c.542dup (p.Leu183fs) rs776748338
NM_000487.6(ARSA):c.545C>G (p.Pro182Arg) rs1135401755
NM_000487.6(ARSA):c.545del (p.Pro182fs) rs1057516907
NM_000487.6(ARSA):c.582dup (p.Trp195fs)
NM_000487.6(ARSA):c.622del (p.His208fs) rs1555900900
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys) rs527640350
NM_000487.6(ARSA):c.677C>T (p.Ala226Val) rs74315468
NM_000487.6(ARSA):c.684+1G>A
NM_000487.6(ARSA):c.685-1G>A
NM_000487.6(ARSA):c.697C>A (p.Pro233Thr) rs74315469
NM_000487.6(ARSA):c.700C>T (p.Gln234Ter)
NM_000487.6(ARSA):c.712C>T (p.Gln238Ter)
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys) rs74315470
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.6(ARSA):c.746T>C (p.Phe249Ser) rs199476384
NM_000487.6(ARSA):c.769G>C (p.Asp257His) rs80338819
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472
NM_000487.6(ARSA):c.836_837delinsAA (p.Ile279Lys)
NM_000487.6(ARSA):c.852T>A (p.Asn284Lys) rs1135401756
NM_000487.6(ARSA):c.854+1G>A
NM_000487.6(ARSA):c.855-1G>A
NM_000487.6(ARSA):c.862A>C (p.Thr288Pro) rs28940894
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys) rs74315473
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355
NM_000487.6(ARSA):c.877C>T (p.Arg293Ter) rs1555900678
NM_000487.6(ARSA):c.890C>A (p.Ser297Tyr) rs74315474
NM_000487.6(ARSA):c.905G>A (p.Cys302Tyr)
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.925G>A (p.Glu309Lys) rs199476360
NM_000487.6(ARSA):c.929G>T (p.Gly310Val) rs199476356
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_000487.6(ARSA):c.956_958del (p.Phe319del)
NM_000487.6(ARSA):c.960G>A (p.Trp320Ter) rs1375757476
NM_000487.6(ARSA):c.98T>C (p.Leu33Pro) rs1135401754

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