List of variants reported as pathogenic for autosomal recessive disease by Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)	rs113993959	0.00029
NM_000518.5(HBB):c.316-2A>G	rs33914668	0.00003
NM_000231.3(SGCG):c.167G>A (p.Trp56Ter)	rs1351510337
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_001160372.4(TRAPPC9):c.2186del (p.Gly729fs)
NM_002693.3(POLG):c.1457G>A (p.Trp486Ter)	rs2055531147

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.