ClinVar Miner

List of variants reported as pathogenic for X-linked ichthyosis with steryl-sulfatase deficiency by OMIM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001320752.2(STS):c.1007C>T (p.Ser336Leu) rs137853167
NM_001320752.2(STS):c.1099T>A (p.Trp367Arg) rs137853165
NM_001320752.2(STS):c.1100G>C (p.Trp367Ser) rs137853168
NM_001320752.2(STS):c.1241+1G>T rs1601748137
NM_001320752.2(STS):c.1316A>G (p.His439Arg) rs137853169
NM_001320752.2(STS):c.1322G>A (p.Cys441Tyr) rs137853166

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