List of variants in gene MCPH1 reported as likely pathogenic for not provided

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

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_024596.5(MCPH1):c.1974-2A>G	rs541042265	0.00005
NM_024596.5(MCPH1):c.1625T>G (p.Leu542Ter)	rs748011724	0.00004
NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer)	rs587783735	0.00004
NM_024596.5(MCPH1):c.322-1G>C	rs201721894	0.00004
NM_024596.5(MCPH1):c.2118G>A (p.Trp706Ter)	rs1427099165	0.00001
NM_024596.5(MCPH1):c.115-2A>G
NM_024596.5(MCPH1):c.149_151delinsGTG (p.Val50_Ile51delinsGlyVal)	rs1554476471
NM_024596.5(MCPH1):c.22+2T>C
NM_024596.5(MCPH1):c.23-1G>A
NM_024596.5(MCPH1):c.23-829_28del
NM_024596.5(MCPH1):c.233+2T>C
NM_024596.5(MCPH1):c.236G>T (p.Cys79Phe)
NM_024596.5(MCPH1):c.2453-1G>C	rs587783739
NM_024596.5(MCPH1):c.321+2T>C
NM_024596.5(MCPH1):c.322-2A>G
NM_024596.5(MCPH1):c.40G>A (p.Glu14Lys)	rs2129550760
NM_024596.5(MCPH1):c.437-2A>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.