List of variants in gene combination NR2C2AP, RFXANK reported as uncertain significance for MHC class II deficiency

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003721.4(RFXANK):c.765G>A (p.Val255=)	rs113406972	0.00165
NM_003721.4(RFXANK):c.778G>A (p.Glu260Lys)	rs150729244	0.00034
NM_003721.4(RFXANK):c.726C>G (p.Ile242Met)	rs200043123	0.00013
NM_003721.4(RFXANK):c.754A>G (p.Ser252Gly)	rs761097826	0.00003
NM_003721.4(RFXANK):c.766C>T (p.Pro256Ser)	rs759707164	0.00003
NM_003721.4(RFXANK):c.721G>T (p.Val241Leu)	rs769532234	0.00001
NC_000019.9:g.(?_19312438)_(19312528_?)dup
NM_003721.4(RFXANK):c.713-1G>A	rs2060720733
NM_003721.4(RFXANK):c.745C>G (p.Leu249Val)

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.