List of variants in gene CARMIL2 reported as pathogenic for autosomal recessive disease

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001013838.3(CARMIL2):c.1916T>A (p.Leu639His)	rs775061512	0.00001
NM_001013838.3(CARMIL2):c.520C>T (p.Arg174Ter)	rs758210528	0.00001
NM_001013838.3(CARMIL2):c.871+1G>T	rs886041044	0.00001
NM_001013838.3(CARMIL2):c.1115T>G (p.Leu372Arg)	rs1567628757
NM_001013838.3(CARMIL2):c.149G>C (p.Arg50Thr)	rs1567626023
NM_001013838.3(CARMIL2):c.1574T>A (p.Leu525Gln)	rs1567629943
NM_001013838.3(CARMIL2):c.1784del (p.Lys595fs)	rs774594582
NM_001013838.3(CARMIL2):c.2536_2548del (p.Leu846fs)	rs1567632829
NM_001013838.3(CARMIL2):c.2557C>T (p.Gln853Ter)	rs1567632864
NM_001013838.3(CARMIL2):c.490dup (p.Ala164fs)	rs886041043

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.