ClinVar Miner

List of variants studied for X-linked ichthyosis with steryl-sulfatase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001320752.2(STS):c.383-16C>T rs56055086 0.00332
NM_001320752.2(STS):c.1111A>G (p.Ile371Val) rs748174656 0.00001
NM_001320752.2(STS):c.241C>T (p.Arg81Trp) rs1259321805 0.00001
GRCh37/hg19 Xp22.31(chrX:6455149-8143242)x1
GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x0
GRCh37/hg19 Xp22.31(chrX:6497085-7910475)
GRCh37/hg19 Xp22.31(chrX:6497085-8135053)
GRCh37/hg19 Xp22.31(chrX:6575924-8173248)x0
GRCh37/hg19 Xp22.31(chrX:6696168-7396902)
GRCh37/hg19 Xp22.31(chrX:6954111-8058641)
GRCh37/hg19 Xp22.31(chrX:6968337-8434424)
GRCh38/hg38 Xp22.31(chrX:6989414-7926139)x0
NC_000023.11:g.(6499768_6517018)_(8187691_8193324)del
NC_000023.11:g.(6500268_6517018)_(7739446_7762747)del
NC_000023.11:g.(6560264_6560764)_(8187691_8193324)del
NC_000023.11:g.(6674278_6675309)_(7911900_7922037)del
NM_000351.4:g.(?_6551155)_(8032120_?)del
NM_001320752.2(STS):c.1007C>T (p.Ser336Leu) rs137853167
NM_001320752.2(STS):c.1082-18T>C rs1927373599
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.1108G>T (p.Gly370Cys)
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_001320752.2(STS):c.259+8_259+10del rs773065157
NM_001320752.2(STS):c.272G>A (p.Trp91Ter) rs1463414987
NM_001320752.2(STS):c.437del (p.Pro146fs) rs2147089236
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.