Variants in gene AFG3L2 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status:		Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status:		Submission 2 (likely benign) 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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=)	rs11553521	0.77624
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=)	rs11080572	0.67857
NM_006796.3(AFG3L2):c.98A>C (p.Gln33Pro)	rs777868371	0.00211
NM_006796.3(AFG3L2):c.114+12C>T	rs758470020	0.00124
NM_006796.3(AFG3L2):c.1319-7C>T	rs182327153	0.00102
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr)	rs149605021	0.00069
NM_006796.3(AFG3L2):c.1866G>A (p.Leu622=)	rs777264204	0.00009
NM_006796.3(AFG3L2):c.1065G>A (p.Thr355=)	rs139181972	0.00006
NM_006796.3(AFG3L2):c.1479G>A (p.Pro493=)	rs761143170	0.00006
NM_006796.3(AFG3L2):c.1981-14T>C	rs765707984	0.00002
NM_006796.3(AFG3L2):c.1233G>A (p.Ala411=)	rs774375813	0.00001
NM_006796.3(AFG3L2):c.215-5A>C	rs371046479	0.00001
NM_006796.3(AFG3L2):c.293-14_293-13del	rs556473698

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.