ClinVar Miner

List of variants studied for Mucopolysaccharidosis type 6 by Genome-Nilou Lab

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000046.5(ARSB):c.-15C>T rs779990830 0.00016
NM_000046.5(ARSB):c.475C>T (p.Arg159Cys) rs202134230 0.00005
NM_000046.5(ARSB):c.658A>G (p.Ile220Val) rs202130413 0.00005
NM_000046.5(ARSB):c.1224C>T (p.Asn408=) rs762454192 0.00001
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg) rs746206847 0.00001
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000046.5(ARSB):c.409G>A (p.Gly137Ser) rs2112530008
NM_000046.5(ARSB):c.7C>T (p.Pro3Ser) rs887343928

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