ClinVar Miner

List of variants reported as uncertain significance for Intellectual disability, X-linked 106

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_181672.3(OGT):c.1125A>T (p.Gly375=) rs1007777038 0.00005
NM_181672.3(OGT):c.3029A>G (p.Lys1010Arg) rs997650019 0.00004
NM_181672.3(OGT):c.1879C>T (p.Arg627Cys) rs766646613 0.00002
NM_181672.3(OGT):c.2693A>G (p.Asn898Ser) rs899091443 0.00002
NM_181672.3(OGT):c.349C>T (p.Arg117Cys) rs1317050680 0.00001
NM_181672.3(OGT):c.1357C>G (p.Arg453Gly) rs763636681
NM_181672.3(OGT):c.140T>G (p.Leu47Arg) rs2522815999
NM_181672.3(OGT):c.1426G>T (p.Val476Phe)
NM_181672.3(OGT):c.1664G>A (p.Arg555Gln) rs2522848775
NM_181672.3(OGT):c.1708A>G (p.Thr570Ala) rs2040367058
NM_181672.3(OGT):c.1709C>T (p.Thr570Ile) rs2522848815
NM_181672.3(OGT):c.1969C>G (p.Pro657Ala)
NM_181672.3(OGT):c.2105C>A (p.Thr702Asn)
NM_181672.3(OGT):c.2218G>A (p.Asp740Asn) rs2522854181
NM_181672.3(OGT):c.2344A>G (p.Ile782Val) rs2522854599
NM_181672.3(OGT):c.2429C>G (p.Thr810Ser) rs2522854753
NM_181672.3(OGT):c.2501A>G (p.Gln834Arg) rs2147691043
NM_181672.3(OGT):c.2636C>T (p.Pro879Leu) rs2040424398
NM_181672.3(OGT):c.2723A>G (p.Lys908Arg) rs2522859972
NM_181672.3(OGT):c.280A>C (p.Asn94His)
NM_181672.3(OGT):c.2855C>T (p.Ala952Val) rs2522860710
NM_181672.3(OGT):c.344C>T (p.Ala115Val)
NM_181672.3(OGT):c.34A>C (p.Thr12Pro)
NM_181672.3(OGT):c.420A>T (p.Glu140Asp) rs2040191879
NM_181672.3(OGT):c.596G>A (p.Cys199Tyr) rs2522830359
NM_181672.3(OGT):c.907C>T (p.Leu303Phe)
NM_181672.3(OGT):c.929C>T (p.Ala310Val) rs2147682972
NM_181672.3(OGT):c.955G>A (p.Ala319Thr) rs1602147851

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.