ClinVar Miner

List of variants in gene CCDC40 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg) rs191736683 0.00200
NM_017950.4(CCDC40):c.1520A>T (p.Lys507Met) rs563467821 0.00039
NM_017950.4(CCDC40):c.772A>G (p.Met258Val) rs200614903 0.00014
NM_017950.4(CCDC40):c.1076G>A (p.Arg359His) rs373746597 0.00012
NM_017950.4(CCDC40):c.1057G>A (p.Ala353Thr) rs202123909 0.00011
NM_017950.4(CCDC40):c.2911G>A (p.Val971Ile) rs746632559 0.00009
NM_017950.4(CCDC40):c.1883C>T (p.Thr628Met) rs376363442 0.00006
NM_017950.4(CCDC40):c.940-7G>A rs727504972 0.00004
NM_017950.4(CCDC40):c.2939A>T (p.Lys980Met) rs201104817 0.00003
NM_017950.4(CCDC40):c.308C>T (p.Pro103Leu) rs769458274 0.00003
NM_017950.4(CCDC40):c.1814T>C (p.Met605Thr) rs767290092 0.00002
NM_017950.4(CCDC40):c.2798T>G (p.Ile933Ser) rs564504598 0.00001
NM_017950.4(CCDC40):c.1085A>G (p.Lys362Arg) rs2143617296
NM_017950.4(CCDC40):c.1481G>A (p.Arg494His)
NM_017950.4(CCDC40):c.1714T>C (p.Cys572Arg) rs199786478
NM_017950.4(CCDC40):c.1806+5G>A
NM_017950.4(CCDC40):c.1885G>C (p.Asp629His) rs2038461062
NM_017950.4(CCDC40):c.2900G>A (p.Arg967His) rs61686936
NM_017950.4(CCDC40):c.2998C>T (p.Arg1000Trp)
NM_017950.4(CCDC40):c.3229G>A (p.Ala1077Thr)
NM_017950.4(CCDC40):c.93+4A>G

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.