ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_017739.3(POMGNT1):c.1212-66T>C
NM_017739.3(POMGNT1):c.1212-81C>T
NM_017739.3(POMGNT1):c.1257G>A (p.Leu419=) rs41292143
NM_017739.3(POMGNT1):c.1539+119A>G
NM_017739.3(POMGNT1):c.1539+215T>G
NM_017739.3(POMGNT1):c.1539+319G>T
NM_017739.3(POMGNT1):c.1540-16C>T rs10493123
NM_017739.3(POMGNT1):c.1650-212G>A
NM_017739.3(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973
NM_017739.3(POMGNT1):c.421-7C>A rs189274856
NM_017739.3(POMGNT1):c.951-52A>G

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.