ClinVar Miner

List of variants reported as likely benign for Metachromatic leukodystrophy by Invitae

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Total variants: 29
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HGVS dbSNP
NM_000487.6(ARSA):c.1006C>T (p.Leu336=) rs778950224
NM_000487.6(ARSA):c.1107+9G>A rs768146306
NM_000487.6(ARSA):c.1211-10C>T rs398123413
NM_000487.6(ARSA):c.1251C>T (p.His417=) rs140158705
NM_000487.6(ARSA):c.1297C>G (p.Leu433Val) rs201693608
NM_000487.6(ARSA):c.1325A>G (p.Asn442Ser) rs6151427
NM_000487.6(ARSA):c.1332G>T (p.Leu444=) rs540031338
NM_000487.6(ARSA):c.1345G>A (p.Gly449Arg) rs117341984
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371
NM_000487.6(ARSA):c.1455C>T (p.Pro485=) rs903106180
NM_000487.6(ARSA):c.1487C>T (p.Thr496Ile) rs201085386
NM_000487.6(ARSA):c.224+10G>C rs1603445022
NM_000487.6(ARSA):c.224+8G>A rs775536824
NM_000487.6(ARSA):c.228C>T (p.Ala76=) rs371930403
NM_000487.6(ARSA):c.297G>C (p.Arg99=) rs1024546326
NM_000487.6(ARSA):c.309C>T (p.Pro103=) rs760915508
NM_000487.6(ARSA):c.327G>A (p.Val109=) rs779471096
NM_000487.6(ARSA):c.345C>G (p.Ala115=) rs943706810
NM_000487.6(ARSA):c.414C>G (p.Pro138=) rs912206675
NM_000487.6(ARSA):c.510C>T (p.Cys170=) rs1483727422
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) rs74315466
NM_000487.6(ARSA):c.530G>A (p.Gly177Asp) rs556812341
NM_000487.6(ARSA):c.564C>T (p.Ser188=) rs113209108
NM_000487.6(ARSA):c.582C>T (p.Pro194=) rs372532763
NM_000487.6(ARSA):c.588G>A (p.Leu196=) rs758643108
NM_000487.6(ARSA):c.828G>A (p.Thr276=) rs370585019
NM_000487.6(ARSA):c.900G>A (p.Leu300=) rs540600192
NM_000487.6(ARSA):c.918G>A (p.Thr306=) rs370250328
NM_000487.6(ARSA):c.982G>A (p.Val328Met) rs143994992

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