List of variants in gene CCDC40 reported as benign by Illumina Laboratory Services, Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017950.4(CCDC40):c.207G>C (p.Val69=)	rs2289527	0.98631
NM_017950.4(CCDC40):c.1890T>G (p.Ala630=)	rs35578653	0.52425
NM_017950.4(CCDC40):c.676+13T>C	rs7212525	0.34974
NM_017950.4(CCDC40):c.677-4C>G	rs2289530	0.19337
NM_017950.4(CCDC40):c.1159+12C>T	rs2289533	0.19106
NM_017950.4(CCDC40):c.2323G>A (p.Val775Met)	rs60684213	0.11874
NM_017950.4(CCDC40):c.873C>T (p.Phe291=)	rs2289531	0.09951
NM_017950.4(CCDC40):c.1889C>T (p.Ala630Val)	rs61749058	0.08699
NM_017950.4(CCDC40):c.507G>A (p.Ser169=)	rs2885349	0.05290
NM_017950.4(CCDC40):c.1338C>T (p.Leu446=)	rs61734950	0.04617
NM_017950.4(CCDC40):c.2868G>A (p.Lys956=)	rs1982243	0.02985
NM_017950.4(CCDC40):c.504G>A (p.Pro168=)	rs74000351	0.02786
NM_017950.4(CCDC40):c.2604C>T (p.Phe868=)	rs61749027	0.01818
NM_017950.4(CCDC40):c.946G>A (p.Ala316Thr)	rs61998241	0.01690
NM_017950.4(CCDC40):c.1131C>T (p.Cys377=)	rs74692882	0.01622
NM_017950.4(CCDC40):c.1466G>T (p.Ser489Ile)	rs61739354	0.01613
NM_017950.4(CCDC40):c.1449C>T (p.Thr483=)	rs116824266	0.01523
NM_017950.4(CCDC40):c.2682G>A (p.Ala894=)	rs4889815	0.00968
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln)	rs61734951	0.00943
NM_017950.4(CCDC40):c.1303G>A (p.Glu435Lys)	rs62000409	0.00649
NM_017950.4(CCDC40):c.1144G>A (p.Glu382Lys)	rs2289532	0.00028
NM_017950.4(CCDC40):c.2832+462_2832+463insCAC	rs10693712
NM_017950.4(CCDC40):c.2900G>T (p.Arg967Leu)	rs61686936

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.