List of variants in gene CTC1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_025099.6(CTC1):c.435+3=	rs6503093	0.99999
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val)	rs3027238	0.94552
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val)	rs3826543	0.77529
NM_025099.6(CTC1):c.990C>T (p.Asp330=)	rs74506939	0.15238
NM_025099.6(CTC1):c.2160C>T (p.Thr720=)	rs3027235	0.04058
NM_025099.6(CTC1):c.366A>G (p.Ala122=)	rs73244859	0.02139
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=)	rs3027242	0.01548
NM_025099.6(CTC1):c.2162G>C (p.Gly721Ala)	rs62620189	0.01383
NM_025099.6(CTC1):c.598C>T (p.Pro200Ser)	rs772395506	0.00001
NM_025099.6(CTC1):c.1241G>C (p.Gly414Ala)	rs62624978
NM_025099.6(CTC1):c.3072G>A (p.Gln1024=)	rs1279994496

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.