ClinVar Miner

List of variants in gene LSS studied for alopecia-intellectual disability syndrome 4

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002340.6(LSS):c.1924T>G (p.Leu642Val) rs2254524 0.72214
NM_002340.6(LSS):c.784-6C>T rs11701729 0.56553
NM_002340.6(LSS):c.551-6G>C rs2277826 0.53664
NM_002340.6(LSS):c.864G>C (p.Pro288=) rs9980968 0.38541
NM_002340.6(LSS):c.752C>T (p.Ala251Val) rs61735801 0.00978
NM_002340.6(LSS):c.1194+5G>A rs748758448 0.00003
NM_002340.6(LSS):c.1547A>G (p.Asn516Ser) rs148141905 0.00001
NM_002340.6(LSS):c.857A>G (p.Tyr286Cys) rs987857709 0.00001
NM_002340.6(LSS):c.1016C>T (p.Ser339Leu)
NM_002340.6(LSS):c.1109+2T>C rs2080164185
NM_002340.6(LSS):c.1153C>G (p.Gln385Glu)
NM_002340.6(LSS):c.1194G>A (p.Glu398=) rs2123731194
NM_002340.6(LSS):c.1522G>C (p.Gly508Arg)
NM_002340.6(LSS):c.181-16_181-15del rs10550493
NM_002340.6(LSS):c.181-27dup rs10550493
NM_002340.6(LSS):c.1955C>T (p.Thr652Ile)
NM_002340.6(LSS):c.2114C>A (p.Thr705Lys) rs746562872
NM_002340.6(LSS):c.22C>G (p.Arg8Gly) rs2123773478
NM_002340.6(LSS):c.304C>G (p.Leu102Val) rs1569039353
NM_002340.6(LSS):c.35G>A (p.Gly12Asp) rs763705074
NM_002340.6(LSS):c.423G>A (p.Trp141Ter) rs1569036540
NM_002340.6(LSS):c.429-1G>A rs2123758710
NM_002340.6(LSS):c.625A>T (p.Asn209Tyr) rs754230211
NM_002340.6(LSS):c.647G>A (p.Trp216Ter) rs745734847
NM_002340.6(LSS):c.779G>C (p.Arg260Pro) rs570157673

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.