ClinVar Miner

List of variants in gene ARSA studied for Metachromatic leukodystrophy, juvenile type

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Gene type:
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Total variants: 5
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HGVS dbSNP
NM_000487.6(ARSA):c.1210+1G>A rs80338820
NM_000487.6(ARSA):c.1279C>A (p.Pro427Thr) rs74315485
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893
NM_000487.6(ARSA):c.465+1G>A rs80338815
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457

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