List of variants reported as pathogenic for Multiple sulfatase deficiency by Genome-Nilou Lab

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Total variants: 7

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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.1045C>T (p.Arg349Trp)	rs137852846	0.00001
NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter)	rs1421066733
NM_182760.4(SUMF1):c.542T>G (p.Leu181Ter)	rs1553575867
NM_182760.4(SUMF1):c.691dup (p.Trp231fs)	rs748337915
NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg)	rs1064793391

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