List of variants studied for Huntington disease-like syndrome by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys)	rs149840356	0.00532
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp)	rs41307461	0.00255
NM_033305.3(VPS13A):c.5765C>A (p.Thr1922Asn)	rs769409983	0.00002
NM_001386393.1(PANK2):c.905+1G>C	rs1135401789	0.00001
NM_003194.5(TBP):c.410C>T (p.Pro137Leu)	rs142540266	0.00001
NM_033305.3(VPS13A):c.7490G>A (p.Arg2497His)	rs766585218	0.00001
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu)	rs559623184
NM_001386393.1(PANK2):c.1196C>T (p.Ala399Val)
NM_001940.4(ATN1):c.1604C>A (p.Ser535Tyr)
NM_033305.3(VPS13A):c.2326C>T (p.Arg776Ter)	rs1417246536
NM_033305.3(VPS13A):c.5157C>T (p.Gly1719=)	rs1829532281
NM_033305.3(VPS13A):c.6818C>A (p.Ser2273Ter)	rs1830740171

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.