List of variants reported as benign for Microcephaly 1, primary, autosomal recessive by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly)	rs2515569	0.99234
NM_024596.5(MCPH1):c.228G>T (p.Val76=)	rs2305022	0.69651
NM_024596.5(MCPH1):c.940G>C (p.Asp314His)	rs930557	0.67747
NM_024596.5(MCPH1):c.2215-19A>G	rs2936531	0.45478
NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val)	rs1057090	0.44044
NM_024596.5(MCPH1):c.2226C>T (p.Ser742=)	rs2912010	0.39666
NM_024596.5(MCPH1):c.2418C>A (p.Ala806=)	rs2912016	0.37333
NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser)	rs1057091	0.26590
NM_024596.5(MCPH1):c.911G>T (p.Arg304Ile)	rs2083914	0.10648

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.