ClinVar Miner

List of variants in gene CRTAP reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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.1039C>T (p.Leu347Phe) rs115198029 0.00250
NM_006371.5(CRTAP):c.732C>T (p.Leu244=) rs149119710 0.00178
NM_006371.5(CRTAP):c.289G>C (p.Ala97Pro) rs200243989 0.00055
NM_006371.5(CRTAP):c.471+2C>A rs137853943 0.00010
NM_006371.5(CRTAP):c.282C>T (p.Pro94=) rs540998437 0.00002
NM_006371.5(CRTAP):c.582C>T (p.Ala194=) rs149165428 0.00002
NM_006371.5(CRTAP):c.702C>T (p.Pro234=) rs371017739 0.00002
NM_006371.5(CRTAP):c.609C>G (p.Thr203=) rs778959807 0.00001
NM_006371.5(CRTAP):c.190G>C (p.Val64Leu)
NM_006371.5(CRTAP):c.472-1011C>T
NM_006371.5(CRTAP):c.472-1021C>G rs72659360
NM_006371.5(CRTAP):c.954A>C (p.Ala318=)

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.