ClinVar Miner

List of variants in gene ANGPT2, MCPH1 studied for microcephaly with intellectual disability

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu) rs199861426 0.00086
NM_024596.5(MCPH1):c.2199C>G (p.His733Gln) rs202015253 0.00016
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter) rs201599657 0.00013
NM_024596.5(MCPH1):c.2210C>G (p.Ala737Gly) rs759545352 0.00011
NM_024596.5(MCPH1):c.2214C>T (p.Pro738=) rs35344839 0.00007
NM_024596.5(MCPH1):c.2137-7C>T rs375022779 0.00006
NM_024596.5(MCPH1):c.2214+2T>C rs575037500 0.00001
GRCh37/hg19 8p23.2-23.1(chr8:6160874-6500521)
NM_024596.5(MCPH1):c.2195_2196del (p.His732fs)
NM_024596.5(MCPH1):c.2214+13834T>G
NM_024596.5(MCPH1):c.2214+1G>A

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.