List of variants reported as pathogenic for X-linked ichthyosis syndrome by OMIM

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Total variants: 12

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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
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter)	rs104894903
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val)	rs104894909
NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter)	rs104894905
NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro)	rs104894904
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser)	rs104894901
NM_015922.3(NSDHL):c.628C>T (p.Gln210Ter)	rs104894902

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