ClinVar Miner

List of variants studied for Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024996.7(GFM1):c.643G>A (p.Val215Ile) rs2303909 0.58201
NM_024996.7(GFM1):c.18T>C (p.Ala6=) rs1864507 0.58169
NM_024996.7(GFM1):c.81+84C>G rs1864505 0.42613
NM_024996.7(GFM1):c.*6C>T rs1047355 0.42265
NM_024996.7(GFM1):c.690-87A>G rs9810874 0.42203
NM_024996.7(GFM1):c.1083+82T>C rs9884039 0.42175
NM_024996.7(GFM1):c.1083+57C>T rs62286656 0.36155
NM_024996.7(GFM1):c.81+22A>G rs1864506 0.35797
NM_024996.7(GFM1):c.689+891C>T rs56167308 0.17770
NM_024996.7(GFM1):c.-33C>T rs28372852 0.17766
NM_024996.7(GFM1):c.1323+83A>G rs2291595 0.15507
NM_024996.7(GFM1):c.1323+72A>G rs2291594 0.10832
NM_024996.7(GFM1):c.1032C>T (p.Asn344=) rs373952002 0.00036
NM_024996.7(GFM1):c.1831C>T (p.Leu611=) rs190393538 0.00026
NM_024996.7(GFM1):c.1383C>T (p.Asn461=) rs774976760 0.00004
NM_024996.7(GFM1):c.344A>G (p.Asn115Ser) rs779253646 0.00002
NM_024996.7(GFM1):c.1384G>T (p.Asp462Tyr) rs200244667
NM_024996.7(GFM1):c.1519-25A>G rs7628497
NM_024996.7(GFM1):c.748del (p.Arg250fs) rs2108016910

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.