List of variants in gene NCAPD2 studied for Microcephaly 21, primary, autosomal recessive

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014865.4(NCAPD2):c.247C>G (p.Gln83Glu)	rs714774	0.79942
NM_014865.4(NCAPD2):c.2566+30A>T	rs7311174	0.79246
NM_014865.4(NCAPD2):c.3300T>C (p.Arg1100=)	rs2072374	0.79236
NM_014865.4(NCAPD2):c.3801A>G (p.Val1267=)	rs1043262	0.77887
NM_014865.4(NCAPD2):c.1920C>A (p.Ile640=)	rs917634	0.50857
NM_014865.4(NCAPD2):c.3573-13C>T	rs7316224	0.34606
NM_014865.4(NCAPD2):c.127+27C>T	rs6489718	0.34476
NM_014865.4(NCAPD2):c.3483C>T (p.Asn1161=)	rs740850	0.34433
NM_014865.4(NCAPD2):c.1954+1G>A	rs149296057	0.00022
NM_014865.4(NCAPD2):c.1526A>G (p.Asn509Ser)	rs145893978	0.00001
NM_014865.4(NCAPD2):c.1166C>T (p.Thr389Ile)	rs576859525
NM_014865.4(NCAPD2):c.2508del (p.Phe837fs)	rs772347389
NM_014865.4(NCAPD2):c.3054_3057del (p.Leu1019fs)
NM_014865.4(NCAPD2):c.3830A>T (p.Glu1277Val)	rs1946356525

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.