List of variants in gene combination LOC129936883, RFT1 reported as uncertain significance for RFT1-congenital disorder of glycosylation

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

Total variants: 20

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_052859.4(RFT1):c.5G>A (p.Gly2Asp)	rs185366134	0.00187
NM_052859.4(RFT1):c.47C>G (p.Ser16Cys)	rs148716754	0.00058
NM_052859.4(RFT1):c.-1T>C	rs886058729	0.00003
NM_052859.4(RFT1):c.23G>A (p.Gly8Asp)	rs151322409	0.00003
NM_052859.4(RFT1):c.22G>T (p.Gly8Cys)	rs993455093	0.00002
NM_052859.4(RFT1):c.63G>A (p.Gln21=)	rs139372284	0.00001
NM_052859.4(RFT1):c.-16G>T	rs766018631
NM_052859.4(RFT1):c.10C>A (p.Gln4Lys)	rs773959881
NM_052859.4(RFT1):c.34C>G (p.Arg12Gly)
NM_052859.4(RFT1):c.34C>T (p.Arg12Trp)
NM_052859.4(RFT1):c.3G>A (p.Met1Ile)	rs2107183535
NM_052859.4(RFT1):c.49G>A (p.Gly17Ser)
NM_052859.4(RFT1):c.49G>C (p.Gly17Arg)
NM_052859.4(RFT1):c.4G>C (p.Gly2Arg)
NM_052859.4(RFT1):c.55C>T (p.Leu19Phe)
NM_052859.4(RFT1):c.56T>C (p.Leu19Pro)	rs1575509225
NM_052859.4(RFT1):c.56T>G (p.Leu19Arg)
NM_052859.4(RFT1):c.63+3A>G
NM_052859.4(RFT1):c.63+4C>G	rs2107183082
NM_052859.4(RFT1):c.7A>G (p.Ser3Gly)	rs1201237484

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.