ClinVar Miner

List of variants in gene CCDC40 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NC_000017.10:g.(?_78032273)_(78032799_?)del
NM_017950.4(CCDC40):c.1276G>T (p.Glu426Ter) rs775299709
NM_017950.4(CCDC40):c.1312A>T (p.Lys438Ter)
NM_017950.4(CCDC40):c.1315C>T (p.Gln439Ter) rs387907091
NM_017950.4(CCDC40):c.1345C>T (p.Arg449Ter) rs387907093
NM_017950.4(CCDC40):c.1416del (p.Ile473fs) rs764011276
NM_017950.4(CCDC40):c.1440+1G>C rs886042621
NM_017950.4(CCDC40):c.1620del (p.Ile541fs) rs878855041
NM_017950.4(CCDC40):c.1951C>T (p.Gln651Ter) rs387907092
NM_017950.4(CCDC40):c.2183_2184del (p.Gly728fs) rs751191119
NM_017950.4(CCDC40):c.2440C>T (p.Arg814Ter)
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393
NM_017950.4(CCDC40):c.2591_2592delinsACCG (p.Thr864fs) rs1060501719
NM_017950.4(CCDC40):c.2647C>T (p.Gln883Ter)
NM_017950.4(CCDC40):c.2671G>T (p.Glu891Ter) rs773796940
NM_017950.4(CCDC40):c.2712-1G>A rs370706991
NM_017950.4(CCDC40):c.2712-1G>T rs370706991
NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs) rs587778819
NM_017950.4(CCDC40):c.2824_2825insTGT (p.Arg942delinsMetTrp) rs587778819
NM_017950.4(CCDC40):c.2852dup (p.Lys952fs) rs878855042
NM_017950.4(CCDC40):c.3004dup (p.Ile1002fs)
NM_017950.4(CCDC40):c.3097A>T (p.Lys1033Ter) rs863224519
NM_017950.4(CCDC40):c.3129del (p.Phe1044fs) rs1418585908
NM_017950.4(CCDC40):c.3157del (p.Arg1053fs) rs1567818236
NM_017950.4(CCDC40):c.3354C>A (p.Tyr1118Ter) rs374909386
NM_017950.4(CCDC40):c.415C>T (p.Gln139Ter)
NM_017950.4(CCDC40):c.424C>T (p.Gln142Ter) rs1568667609
NM_017950.4(CCDC40):c.940-2A>G rs750708201
NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter) rs754867753

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.