ClinVar Miner

List of variants reported as pathogenic for Meier-Gorlin syndrome 1 by Bicknell laboratory, University of Otago

Included ClinVar conditions (1):

Meier-Gorlin syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004153.4(ORC1):c.217G>A (p.Glu73Lys)	rs373671398	0.00001
NC_000001.11:g.52369378_52373625del
NM_004153.4(ORC1):c.1865T>C (p.Leu622Pro)	rs2147923128

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.