List of variants reported as likely pathogenic for Multiple sulfatase deficiency by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_182760.4(SUMF1):c.602+1G>A	rs143616931	0.00004
NM_182760.4(SUMF1):c.1046G>A (p.Arg349Gln)	rs137852847	0.00001
NM_182760.4(SUMF1):c.445-1G>A	rs1237016251	0.00001
NM_182760.4(SUMF1):c.726-1_726del	rs1575196325

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