ClinVar Miner

List of variants reported as likely pathogenic for Multiple sulfatase deficiency

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Total variants: 7
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HGVS dbSNP
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846
NM_182760.4(SUMF1):c.244G>T (p.Gly82Ter) rs986500427
NM_182760.4(SUMF1):c.25_270+3del
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850
NM_182760.4(SUMF1):c.726-1_726del
NM_182760.4(SUMF1):c.739G>C (p.Gly247Arg) rs1057517363
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849

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