ClinVar Miner

List of variants studied for Ochoa syndrome by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
NM_001166244.1(HPSE2):c.1291_1292del (p.Asn431fs) rs397515338
NM_001166244.1(HPSE2):c.235_236CT[3] (p.Leu81fs) rs1469962264
NM_001166245.1(HPSE2):c.448+87957C>T rs267606865
NM_001166246.1(HPSE2):c.*51A>T rs397515452
NM_014813.2(LRIG2):c.1980_1981insJX891452.1:g.1_371 (p.Ile662Phefs)
NM_014813.3(LRIG2):c.1230del (p.Glu410fs) rs587776945
NM_014813.3(LRIG2):c.2088del (p.Ser697fs) rs587776947
NM_014813.3(LRIG2):c.2125C>T (p.Arg709Ter) rs587776946
NM_021828.4(HPSE2):c.1414C>T (p.Arg472Ter) rs267606864
NM_021828.4(HPSE2):c.1516C>T (p.Arg506Ter) rs267606866
NM_021828.4(HPSE2):c.57dup (p.Ala20fs) rs778121647

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.