ClinVar Miner

List of variants reported as pathogenic for Metachromatic leukodystrophy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943 0.00017
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355 0.00011
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475 0.00006
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467 0.00006
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458 0.00004
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_000487.6(ARSA):c.925G>A (p.Glu309Lys) rs199476360 0.00004
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941 0.00002
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu) rs6151411 0.00002
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059 0.00002
NM_000487.6(ARSA):c.960G>A (p.Trp320Ter) rs1375757476 0.00002
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser) rs148092995 0.00002
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln) rs74315477 0.00001
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) rs74315480 0.00001
NM_000487.6(ARSA):c.1210+1G>A rs80338820 0.00001
NM_000487.6(ARSA):c.178C>T (p.Arg60Trp) rs867538940 0.00001
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp) rs199476352 0.00001
NM_000487.6(ARSA):c.684+1G>A rs146371968 0.00001
NM_000487.6(ARSA):c.769G>C (p.Asp257His) rs80338819 0.00001
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472 0.00001
NM_000487.6(ARSA):c.855-1G>A rs754898479 0.00001
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349 0.00001
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln) rs199476382 0.00001
NM_000046.5(ARSB):c.427del (p.Val143fs) rs766914147
NM_000487.6(ARSA):c.109_116del (p.Asp37fs) rs753415648
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del) rs765905826
NM_000487.6(ARSA):c.1228_1229del (p.Thr410fs) rs2146716979
NM_000487.6(ARSA):c.1344dup (p.Gly449fs) rs761555167
NM_000487.6(ARSA):c.240dup (p.Gly81fs) rs786204599
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.6(ARSA):c.302dup (p.Leu102fs) rs761606317
NM_000487.6(ARSA):c.304del (p.Leu102fs) rs786204673
NM_000487.6(ARSA):c.418dup (p.His140fs) rs745884435
NM_000487.6(ARSA):c.495_501del (p.Pro166fs) rs1057517429
NM_000487.6(ARSA):c.854+1G>A rs886041911
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_002778.4(PSAP):c.1A>G (p.Met1Val) rs121918106

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