ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_017950.3(CCDC40):c.-36C>T rs73437681
NM_017950.4(CCDC40):c.1131C>T (p.Cys377=) rs74692882
NM_017950.4(CCDC40):c.1159+12C>T rs2289533
NM_017950.4(CCDC40):c.1338C>T (p.Leu446=) rs61734950
NM_017950.4(CCDC40):c.1449C>T (p.Thr483=) rs116824266
NM_017950.4(CCDC40):c.1889C>T (p.Ala630Val) rs61749058
NM_017950.4(CCDC40):c.2323G>A (p.Val775Met) rs60684213
NM_017950.4(CCDC40):c.2604C>T (p.Phe868=) rs61749027
NM_017950.4(CCDC40):c.2868G>A (p.Lys956=) rs1982243
NM_017950.4(CCDC40):c.2900G>T (p.Arg967Leu) rs61686936
NM_017950.4(CCDC40):c.504G>A (p.Pro168=) rs74000351
NM_017950.4(CCDC40):c.507G>A (p.Ser169=) rs2885349
NM_017950.4(CCDC40):c.677-4C>G rs2289530
NM_017950.4(CCDC40):c.873C>T (p.Phe291=) rs2289531
NM_017950.4(CCDC40):c.946G>A (p.Ala316Thr) rs61998241

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