Variants in gene UMOD with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status:		Submission 1 (likely 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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003361.4(UMOD):c.1375C>T (p.Arg459Trp)	rs139607138	0.00146
NM_003361.4(UMOD):c.1406C>T (p.Thr469Met)	rs143583842	0.00051
NM_003361.4(UMOD):c.184A>C (p.Thr62Pro)	rs143248111	0.00032
NM_003361.4(UMOD):c.1763G>A (p.Arg588Gln)	rs387907549	0.00014
NM_003361.4(UMOD):c.567C>T (p.Tyr189=)	rs387907553	0.00007
NM_003361.4(UMOD):c.392G>A (p.Gly131Asp)	rs368943553	0.00004
NM_003361.4(UMOD):c.758G>A (p.Gly253Asp)	rs760253448	0.00002
NM_003361.4(UMOD):c.1182+4C>T

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.