List of variants in gene CRTAP studied for not specified

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_006371.5(CRTAP):c.1044G>A (p.Ser348=)	rs1135128	0.36102
NM_006371.5(CRTAP):c.1032T>G (p.Thr344=)	rs1135127	0.36088
NM_006371.5(CRTAP):c.534C>T (p.Asp178=)	rs4076086	0.18059
NM_006371.5(CRTAP):c.213G>A (p.Leu71=)	rs11558338	0.15448
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe)	rs115198029	0.00250
NM_006371.5(CRTAP):c.622-16T>C	rs147610884	0.00250
NM_006371.5(CRTAP):c.732C>T (p.Leu244=)	rs149119710	0.00178
NM_006371.5(CRTAP):c.641T>C (p.Val214Ala)	rs146124454	0.00061
NM_006371.5(CRTAP):c.289G>C (p.Ala97Pro)	rs200243989	0.00055
NM_006371.5(CRTAP):c.654C>T (p.Asn218=)	rs144486582	0.00016
NM_006371.5(CRTAP):c.636A>C (p.Arg212=)	rs749259974	0.00002
NM_006371.5(CRTAP):c.516A>G (p.Leu172=)	rs372425538	0.00001
NM_006371.5(CRTAP):c.793+17T>A	rs767057725	0.00001
NM_006371.5(CRTAP):c.558A>G (p.Ala186=)	rs35357409

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.