ClinVar Miner

List of variants studied for basal ganglia disorder by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001382273.1(TNK2):c.2675G>A (p.Arg892His) rs112384084 0.01127
NM_003285.3(TNR):c.496A>G (p.Thr166Ala) rs147204644 0.00407
NM_003285.3(TNR):c.538A>C (p.Asn180His) rs61731112 0.00326
NM_003285.3(TNR):c.1774A>G (p.Thr592Ala) rs140481433 0.00029
NM_003285.3(TNR):c.463T>A (p.Cys155Ser) rs150331590 0.00006
NM_001382273.1(TNK2):c.1088T>C (p.Val363Ala) rs370013968 0.00005
NM_001382273.1(TNK2):c.2981C>T (p.Ala994Val) rs571171423 0.00004
NM_001382273.1(TNK2):c.1957G>A (p.Val653Met) rs201407161
NM_003285.3(TNR):c.1732C>T (p.Arg578Ter) rs869312899
NM_018897.3(DNAH7):c.10753T>C (p.Phe3585Leu) rs1057519439

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.