List of variants studied for Microcephaly 22, primary, autosomal recessive

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015261.3(NCAPD3):c.2892A>G (p.Val964=)	rs2276265	0.46126
NM_015261.3(NCAPD3):c.1525+18T>A	rs2305379	0.30281
NM_015261.3(NCAPD3):c.1689+20A>G	rs1125399	0.27325
NM_015261.3(NCAPD3):c.1090-33A>G	rs10791349	0.17800
NM_015261.3(NCAPD3):c.2257A>G (p.Asn753Asp)	rs138551616	0.00106
NM_015261.3(NCAPD3):c.2135C>T (p.Thr712Met)	rs143833204	0.00081
NM_015261.3(NCAPD3):c.1000G>A (p.Ala334Thr)	rs140427183	0.00039
NM_015261.3(NCAPD3):c.1215+28G>A	rs896409
NM_015261.3(NCAPD3):c.1783del (p.Val595fs)	rs1555139372
NM_015261.3(NCAPD3):c.2062G>T (p.Ala688Ser)	rs1249831283
NM_015261.3(NCAPD3):c.2707G>A (p.Ala903Thr)	rs1207215795
NM_015261.3(NCAPD3):c.2816A>G (p.Lys939Arg)
NM_015261.3(NCAPD3):c.3197_3198del (p.Asn1065_Tyr1066insTer)
NM_015261.3(NCAPD3):c.3278_3281del (p.Lys1093fs)	rs773824610
NM_015261.3(NCAPD3):c.3458A>C (p.Glu1153Ala)	rs1350194762
NM_015261.3(NCAPD3):c.382+14A>G	rs1555143325

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.