ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP
ARSA, 1-BP DEL, 447C
ARSA, 11-BP DEL, EX8
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys) rs74315483
NM_000487.6(ARSA):c.905G>T (p.Cys302Phe) rs74315484
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459

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