ClinVar Miner

List of variants studied for Multiple sulfatase deficiency by Revvity Omics, Revvity

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_182760.4(SUMF1):c.445-1G>A rs1237016251 0.00001
NM_182760.4(SUMF1):c.445-2A>G rs1293658639 0.00001
NM_182760.4(SUMF1):c.706C>T (p.Arg236Ter) rs748169616 0.00001
NM_182760.4(SUMF1):c.193_205delinsCGG (p.Ala65fs) rs2124822828
NM_182760.4(SUMF1):c.691dup (p.Trp231fs) rs748337915

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