ClinVar Miner

List of variants in gene CCDC88C reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile) rs142295786 0.00150
NM_001080414.4(CCDC88C):c.5296G>A (p.Val1766Met) rs201931182 0.00138
NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser) rs201044013 0.00125
NM_001080414.4(CCDC88C):c.2456A>G (p.Asp819Gly) rs61743881 0.00107
NM_001080414.4(CCDC88C):c.1527+8G>A rs151228192 0.00084
NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu) rs201940261 0.00078
NM_001080414.4(CCDC88C):c.3981C>T (p.Leu1327=) rs201259963 0.00048
NM_001080414.4(CCDC88C):c.4673T>C (p.Phe1558Ser) rs201391511 0.00048
NM_001080414.4(CCDC88C):c.2255A>G (p.Lys752Arg) rs199967225 0.00043
NM_001080414.4(CCDC88C):c.1715C>T (p.Ser572Leu) rs200999247 0.00041
NM_001080414.4(CCDC88C):c.322G>A (p.Gly108Ser) rs61745604 0.00029
NM_001080414.4(CCDC88C):c.5112C>T (p.Ser1704=) rs199730476 0.00011
NM_001080414.4(CCDC88C):c.5331G>C (p.Leu1777=) rs759310053 0.00011
NM_001080414.4(CCDC88C):c.5102G>A (p.Arg1701Gln) rs768365233 0.00008
NM_001080414.4(CCDC88C):c.5836C>T (p.Arg1946Cys) rs371862576 0.00005
NM_001080414.4(CCDC88C):c.708C>T (p.Ser236=) rs745338278 0.00004
NM_001080414.4(CCDC88C):c.809+7C>T rs575390201 0.00004
NM_001080414.4(CCDC88C):c.956G>A (p.Arg319Gln) rs772125931 0.00004
NM_001080414.4(CCDC88C):c.4969G>A (p.Gly1657Arg) rs769028445 0.00002
NM_001080414.4(CCDC88C):c.5284G>A (p.Ala1762Thr) rs201104260 0.00001
NM_001080414.4(CCDC88C):c.185G>A (p.Arg62His) rs757076773
NM_001080414.4(CCDC88C):c.2908ACA[1] (p.Thr971del) rs760595514
NM_001080414.4(CCDC88C):c.3677G>A (p.Arg1226Gln)
NM_001080414.4(CCDC88C):c.3784A>C (p.Asn1262His)
NM_001080414.4(CCDC88C):c.4111A>G (p.Ile1371Val)
NM_001080414.4(CCDC88C):c.458C>A (p.Ala153Asp)
NM_001080414.4(CCDC88C):c.5378C>G (p.Ala1793Gly)
NM_001080414.4(CCDC88C):c.5537A>C (p.Gln1846Pro) rs1596008488
NM_001080414.4(CCDC88C):c.913G>C (p.Ala305Pro) rs755409670

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.