ClinVar Miner

List of variants studied for Metachromatic leukodystrophy by SIB Swiss Institute of Bioinformatics

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530

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