List of variants reported as benign for RFT1-congenital disorder of glycosylation

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_052859.4(RFT1):c.*2887G>A	rs2099162	0.65392
NM_052859.4(RFT1):c.*450C>T	rs2564922	0.63746
NM_052859.4(RFT1):c.1103-24T>C	rs2581829	0.50896
NM_052859.4(RFT1):c.*334A>G	rs2564921	0.47829
NM_052859.4(RFT1):c.1623A>G (p.Thr541=)	rs11242	0.47740
NM_052859.4(RFT1):c.*2646T>C	rs891368	0.47736
NM_052859.4(RFT1):c.*2433C>T	rs1078968	0.47710
NM_052859.4(RFT1):c.*2950C>T	rs2082093	0.47683
NM_052859.4(RFT1):c.*490T>A	rs62255926	0.21145
NM_052859.4(RFT1):c.*2840T>A	rs9875573	0.16647
NM_052859.4(RFT1):c.*622C>G	rs7645611	0.15942
NM_052859.4(RFT1):c.267-20A>T	rs73840213	0.05900
NM_052859.4(RFT1):c.553G>A (p.Ala185Thr)	rs35221142	0.04860
NM_052859.4(RFT1):c.*146C>T	rs72965388	0.03697
NM_052859.4(RFT1):c.*1803T>A	rs114029473	0.03680
NM_052859.4(RFT1):c.*1804C>T	rs114515847	0.03678
NM_052859.4(RFT1):c.*1975C>T	rs75112182	0.02786
NM_052859.4(RFT1):c.*1009G>A	rs73840205	0.01686
NM_052859.4(RFT1):c.64-14C>T	rs78419624	0.01456
NM_052859.4(RFT1):c.*1533G>A	rs139197209	0.00724
NM_052859.4(RFT1):c.*2655T>C	rs148022607	0.00723
NM_052859.4(RFT1):c.436C>T (p.His146Tyr)	rs201794647	0.00036
NM_052859.4(RFT1):c.632C>T (p.Thr211Ile)	rs148289202	0.00020
NM_052859.4(RFT1):c.924G>A (p.Leu308=)	rs140603849	0.00009
NM_052859.4(RFT1):c.1208+19A>G	rs542117380	0.00001
NM_052859.4(RFT1):c.493G>A (p.Val165Ile)	rs571575323	0.00001
NM_052859.4(RFT1):c.267-13dup
NM_052859.4(RFT1):c.267-20del
NM_052859.4(RFT1):c.64-16del	rs776377276

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.