ClinVar Miner

List of variants studied for Mucopolysaccharidosis type 6 by SIB Swiss Institute of Bioinformatics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn) rs25414 0.03947
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809 0.00001
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.936G>T (p.Trp312Cys) rs759384989

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