ClinVar Miner

List of variants studied for Hoyeraal-Hreidarsson syndrome by Genome-Nilou Lab

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001082486.2(ACD):c.1295T>C (p.Val432Ala) rs6979 0.60624
NM_001082486.2(ACD):c.1298+20C>A rs67114979 0.13128
NM_001082486.2(ACD):c.413+3A>G rs8058187 0.12302
NM_001082486.2(ACD):c.1371G>T (p.Pro457=) rs14920 0.03535
NM_001082486.2(ACD):c.923G>A (p.Gly308Glu) rs147189192 0.00679
NM_001082486.2(ACD):c.1207-10C>T rs67185288 0.00536
NM_001082486.2(ACD):c.494-20C>T rs59443695 0.00465
NM_001082486.2(ACD):c.819C>T (p.Pro273=) rs138740815 0.00251
NM_001082486.2(ACD):c.1336C>T (p.Leu446=) rs1050346 0.00188
NM_001082486.2(ACD):c.80G>A (p.Arg27Gln) rs142507451 0.00135
NM_001082486.2(ACD):c.132C>T (p.Gly44=) rs138527794 0.00102

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.