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

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Total variants: 16

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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.1042G>T (p.Ala348Ser)
NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter)	rs1421066733
NM_182760.4(SUMF1):c.266C>A (p.Ser89Ter)
NM_182760.4(SUMF1):c.270+1del	rs2079966206
NM_182760.4(SUMF1):c.279del (p.Ile94fs)	rs2125134167
NM_182760.4(SUMF1):c.464C>T (p.Ser155Phe)	rs1702889459
NM_182760.4(SUMF1):c.529G>C (p.Ala177Pro)	rs1359106679
NM_182760.4(SUMF1):c.536G>C (p.Trp179Ser)
NM_182760.4(SUMF1):c.691dup (p.Trp231fs)	rs748337915
NM_182760.4(SUMF1):c.817G>A (p.Asp273Asn)
NM_182760.4(SUMF1):c.955-3_970del

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