List of variants studied for disorder of vitamin and non-protein cofactor absorption and transport by SingHealth Duke-NUS Institute of Precision Medicine

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

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_016729.3(FOLR1):c.493+2T>C	rs144637717	0.00134
NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly)	rs182512508	0.00086
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)	rs143944436	0.00019
NM_025243.4(SLC19A3):c.111del (p.Tyr38fs)	rs1559252723	0.00001
NM_001081.4(CUBN):c.10285dup (p.Gln3429fs)	rs754704005
NM_001081.4(CUBN):c.5302_5304del (p.Ile1768del)	rs775161946
NM_005957.5(MTHFR):c.1267dup (p.Glu423fs)	rs1557761665
NM_030943.4(AMN):c.1343_1348dup (p.Gly448_Ala449dup)	rs36040113

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.