Variants in gene CIITA with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status:		Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status:		Submission 2 (uncertain significance) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000246.4(CIITA):c.1461C>G (p.Ile487Met)	rs141202424	0.00120
NM_000246.4(CIITA):c.1068G>A (p.Pro356=)	rs140486686	0.00081
NM_000246.4(CIITA):c.1518G>A (p.Ala506=)	rs201215476	0.00043
NM_000246.4(CIITA):c.456G>A (p.Pro152=)	rs151317882	0.00035
NM_000246.4(CIITA):c.1926C>T (p.Val642=)	rs138376967	0.00033
NM_000246.4(CIITA):c.1047T>C (p.Tyr349=)	rs144735718	0.00013
NM_000246.4(CIITA):c.1542G>A (p.Thr514=)	rs2228239	0.00013
NM_000246.4(CIITA):c.772+8C>T	rs557455283	0.00012
NM_000246.4(CIITA):c.2384G>A (p.Arg795Gln)	rs553503699	0.00008
NM_000246.4(CIITA):c.3063-12G>T	rs559875711	0.00007
NM_000246.4(CIITA):c.2816+14C>T	rs191941806
NM_000246.4(CIITA):c.3062+14G>A	rs370557976

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.