List of variants studied for disorder of vitamin and non-protein cofactor absorption and transport by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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_080669.6(SLC46A1):c.512T>A (p.Val171Asp)	rs189103810	0.00106
NM_000355.4(TCN2):c.809C>T (p.Ala270Val)	rs201392026	0.00056
NM_080669.6(SLC46A1):c.43C>T (p.Pro15Ser)	rs781838735	0.00004
NM_000355.4(TCN2):c.1168G>A (p.Gly390Arg)	rs367605153	0.00001
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs)	rs778381859
NM_000355.4(TCN2):c.1195C>G (p.Arg399Gly)	rs769817524
NM_000355.4(TCN2):c.1235A>G (p.Tyr412Cys)	rs745363222
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=)	rs138363524

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.