List of variants reported as uncertain significance for autosomal recessive disease by Genomic Medicine Lab, University of California San Francisco

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005529.7(HSPG2):c.11200G>A (p.Glu3734Lys)	rs757541406	0.00010
NM_022095.4(ZNF335):c.1856G>A (p.Arg619His)	rs555774487	0.00003
NM_001080510.5(METTL23):c.407+6T>C	rs1373087430	0.00001
NM_018131.5(CEP55):c.1373A>G (p.His458Arg)	rs753355777	0.00001
NM_000123.4(ERCC5):c.2189A>G (p.Asp730Gly)	rs766211518
NM_000466.3(PEX1):c.2873_2875delinsT (p.Asp958fs)	rs2116094537
NM_005422.4(TECTA):c.2900C>A (p.Ala967Glu)	rs199688655
NM_005529.7(HSPG2):c.1A>G (p.Met1Val)	rs2152809610
NM_012205.3(HAAO):c.128G>A (p.Arg43Lys)	rs1672558841
NM_022095.4(ZNF335):c.3589C>T (p.Gln1197Ter)	rs1600517442

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.