ClinVar Miner

List of variants in gene CCDC40 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 38
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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.2255T>C (p.Leu752Pro) rs117203086 0.01848
NM_017950.4(CCDC40):c.2604C>T (p.Phe868=) rs61749027 0.01818
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.2784C>T (p.Ile928=) rs118143944 0.00983
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln) rs61734951 0.00943
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala) rs201709592 0.00245
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg) rs191736683 0.00200
NM_017950.4(CCDC40):c.180G>A (p.Ala60=) rs185006459 0.00183
NM_017950.4(CCDC40):c.850G>C (p.Asp284His) rs201042940 0.00099
NM_017950.4(CCDC40):c.51G>A (p.Ser17=) rs141650385 0.00063
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_017950.4(CCDC40):c.1144G>A (p.Glu382Lys) rs2289532 0.00028
NM_017950.4(CCDC40):c.1068G>A (p.Ser356=) rs377156300 0.00008
NM_017950.4(CCDC40):c.940-7G>A rs727504972 0.00004
NM_017950.4(CCDC40):c.461G>A (p.Arg154Lys) rs751661394 0.00003
NM_017950.4(CCDC40):c.677-8C>T rs762961824 0.00003
NM_017950.4(CCDC40):c.1317+42G>A rs756283987 0.00001
NM_017950.4(CCDC40):c.940-2A>G rs750708201 0.00001
NM_017950.4(CCDC40):c.1467C>T (p.Ser489=) rs200154414
NM_017950.4(CCDC40):c.1480C>T (p.Arg494Cys) rs200858130
NM_017950.4(CCDC40):c.1531G>A (p.Glu511Lys) rs59978698
NM_017950.4(CCDC40):c.2832+462_2832+463insCAC rs10693712
NM_017950.4(CCDC40):c.2900G>T (p.Arg967Leu) rs61686936
NM_017950.4(CCDC40):c.83A>G (p.Glu28Gly) rs1555889343

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