ClinVar Miner

List of variants studied for Multiple sulfatase deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 11
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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.463T>C (p.Ser155Pro) rs137852850 0.00009
NM_182760.4(SUMF1):c.602+1G>A rs143616931 0.00004
NM_182760.4(SUMF1):c.653G>A (p.Cys218Tyr) rs137852854 0.00001
NM_182760.4(SUMF1):c.979C>T (p.Arg327Ter) rs137852845 0.00001
NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter) rs1421066733
NM_182760.4(SUMF1):c.270+1del rs2079966206
NM_182760.4(SUMF1):c.279del (p.Ile94fs) rs2125134167
NM_182760.4(SUMF1):c.536G>C (p.Trp179Ser)
NM_182760.4(SUMF1):c.691dup (p.Trp231fs) rs748337915
NM_182760.4(SUMF1):c.955-3_970del

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