List of variants reported as pathogenic for autosomal recessive disease by Laboratory of Medical Genetics, University of Torino

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.754C>T (p.Arg252Trp)	rs5030847
NM_000329.3(RPE65):c.[1206G>A;1207_1210dup]
NM_001034852.3(SMOC1):c.378+1G>T	rs751356341
NM_001034852.3(SMOC1):c.709G>T (p.Glu237Ter)	rs1566709754
NM_001034852.3(SMOC1):c.857G>A (p.Arg286His)	rs1365818420
NM_012233.3(RAB3GAP1):c.2486T>A (p.Leu829Ter)	rs1558805781
NM_018249.6(CDK5RAP2):c.558_559del (p.Glu186fs)
NM_153747.2(PIGC):c.859G>T (p.Glu287Ter)

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.