List of variants reported as pathogenic for autosomal recessive disease by Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

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_003754.3(EIF3F):c.694T>G (p.Phe232Val)	rs141976414	0.00080
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)	rs387907196	0.00002
NM_006432.5(NPC2):c.358C>T (p.Pro120Ser)	rs104894458	0.00001
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs)	rs768759374
NM_001378454.1(ALMS1):c.8598del (p.Glu2867fs)	rs2103892422
NM_003104.6(SORD):c.757del (p.Ala253fs)	rs55901542
NM_182961.4(SYNE1):c.16228C>T (p.Arg5410Ter)	rs761432453
NM_213599.3(ANO5):c.191dup (p.Asn64fs)	rs137854521

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.