ClinVar Miner

List of variants studied for Metachromatic leukodystrophy by OMIM

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Total variants: 11
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HGVS dbSNP
ARSA, 1-BP DEL, 297C
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) rs74315480
NM_000487.6(ARSA):c.1198_1200TTC[1] (p.Phe401del) rs1569077723
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461
NM_000487.6(ARSA):c.467G>A (p.Gly156Asp) rs74315463
NM_000487.6(ARSA):c.506C>G (p.Pro169Arg) rs74315465
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467
NM_000487.6(ARSA):c.677C>T (p.Ala226Val) rs74315468
NM_000487.6(ARSA):c.697C>A (p.Pro233Thr) rs74315469
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys) rs74315470
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys) rs74315473

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