ClinVar Miner

List of variants studied for Meier-Gorlin syndrome 1 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln) rs143141689 0.00016
NM_004153.4(ORC1):c.1996C>T (p.Arg666Trp) rs201253919 0.00010
NM_004153.4(ORC1):c.2159G>A (p.Arg720Gln) rs387906828 0.00002
NM_004153.4(ORC1):c.1482-2A>G rs1378348220 0.00001
NM_004153.4(ORC1):c.266T>C (p.Phe89Ser) rs387906827 0.00001
NM_004153.4(ORC1):c.380A>G (p.Glu127Gly) rs387906826 0.00001
NM_004153.4(ORC1):c.1999_2000delinsA (p.Val667fs) rs1557573504

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.