ClinVar Miner

List of variants reported as benign for Microcephaly 21, primary, autosomal recessive by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014865.4(NCAPD2):c.247C>G (p.Gln83Glu) rs714774 0.79332
NM_014865.4(NCAPD2):c.2566+30A>T rs7311174 0.78668
NM_014865.4(NCAPD2):c.3300T>C (p.Arg1100=) rs2072374 0.78636
NM_014865.4(NCAPD2):c.3801A>G (p.Val1267=) rs1043262 0.77394
NM_014865.4(NCAPD2):c.1920C>A (p.Ile640=) rs917634 0.50383
NM_014865.4(NCAPD2):c.3483C>T (p.Asn1161=) rs740850 0.34433
NM_014865.4(NCAPD2):c.3573-13C>T rs7316224 0.33994
NM_014865.4(NCAPD2):c.127+27C>T rs6489718 0.33839

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.