ClinVar Miner

List of variants in gene CCDC40 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 88
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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.553-41A>G rs7207441 0.34994
NM_017950.4(CCDC40):c.676+13T>C rs7212525 0.34974
NM_017950.4(CCDC40):c.3180+45A>G rs59252872 0.32210
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.3022-48C>T rs72849388 0.18249
NM_017950.3(CCDC40):c.-49C>A rs3752042 0.12603
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.1562+33G>A rs10083858 0.06324
NM_017950.4(CCDC40):c.93+18C>A rs8074956 0.06246
NM_017950.3(CCDC40):c.-36C>T rs73437681 0.05525
NM_017950.4(CCDC40):c.507G>A (p.Ser169=) rs2885349 0.05290
NM_017950.4(CCDC40):c.553-17G>C rs7223400 0.04712
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.3022-28G>A rs74000392 0.02412
NM_017950.4(CCDC40):c.3021+24_3021+25del rs139301500 0.02127
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.946G>A (p.Ala316Thr) rs61998241 0.01690
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.2682G>A (p.Ala894=) rs4889815 0.00968
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln) rs61734951 0.00943
NM_017950.4(CCDC40):c.2608C>T (p.Arg870Cys) rs61749025 0.00769
NM_017950.4(CCDC40):c.1303G>A (p.Glu435Lys) rs62000409 0.00649
NM_017950.4(CCDC40):c.1441-18C>G rs181295177 0.00530
NM_017950.4(CCDC40):c.2832+20G>A rs78493584 0.00516
NM_017950.4(CCDC40):c.630C>T (p.Ser210=) rs117419007 0.00481
NM_017950.4(CCDC40):c.2336G>A (p.Arg779His) rs183809462 0.00395
NM_017950.4(CCDC40):c.1132G>A (p.Ala378Thr) rs116795025 0.00354
NM_017950.4(CCDC40):c.1220T>C (p.Ile407Thr) rs141185078 0.00327
NM_017950.4(CCDC40):c.2785G>A (p.Gly929Ser) rs59896146 0.00264
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg) rs191736683 0.00200
NM_017950.4(CCDC40):c.1739A>G (p.Gln580Arg) rs200815406 0.00200
NM_017950.4(CCDC40):c.180G>A (p.Ala60=) rs185006459 0.00183
NM_017950.4(CCDC40):c.2251C>A (p.Pro751Thr) rs141343307 0.00161
NM_017950.4(CCDC40):c.1440+16G>A rs192026179 0.00155
NM_017950.4(CCDC40):c.856-18G>A rs189118723 0.00151
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile) rs117307093 0.00123
NM_017950.4(CCDC40):c.850G>C (p.Asp284His) rs201042940 0.00099
NM_017950.4(CCDC40):c.2619+25G>A rs151335066 0.00079
NM_017950.4(CCDC40):c.1722C>A (p.Thr574=) rs201559168 0.00078
NM_017950.4(CCDC40):c.1806+8C>T rs182104049 0.00076
NM_017950.4(CCDC40):c.2958C>T (p.Leu986=) rs78945041 0.00076
NM_017950.4(CCDC40):c.699T>C (p.Asp233=) rs9893189 0.00069
NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn) rs200958035 0.00062
NM_017950.4(CCDC40):c.*17C>T rs202179507 0.00038
NM_017950.4(CCDC40):c.2892G>A (p.Ala964=) rs146360951 0.00034
NM_017950.4(CCDC40):c.1479G>T (p.Arg493Ser) rs201739201 0.00031
NM_017950.4(CCDC40):c.2387C>G (p.Ala796Gly) rs139435501 0.00025
NM_017950.4(CCDC40):c.384A>G (p.Ala128=) rs375586063 0.00024
NM_017950.4(CCDC40):c.3176G>A (p.Arg1059Gln) rs200902434 0.00019
NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys) rs201166295 0.00016
NM_017950.4(CCDC40):c.2332C>T (p.Leu778=) rs202075842 0.00016
NM_017950.4(CCDC40):c.3027C>T (p.Thr1009=) rs79588289 0.00010
NM_017950.4(CCDC40):c.3114G>A (p.Ser1038=) rs372856318 0.00010
NM_017950.4(CCDC40):c.666G>A (p.Ser222=) rs199671771 0.00010
NM_017950.4(CCDC40):c.2449+19G>A rs537011469 0.00006
NM_017950.4(CCDC40):c.636C>T (p.Ile212=) rs754379326 0.00006
NM_017950.4(CCDC40):c.470C>T (p.Thr157Ile) rs755159452 0.00004
NM_017950.4(CCDC40):c.141C>T (p.Val47=) rs756511342 0.00002
NM_017950.4(CCDC40):c.3066A>G (p.Thr1022=) rs534912798 0.00002
NM_017950.4(CCDC40):c.1312A>T (p.Lys438Ter) rs371595543 0.00001
NM_017950.4(CCDC40):c.1038G>A (p.Glu346=) rs753690300
NM_017950.4(CCDC40):c.1531G>A (p.Glu511Lys) rs59978698
NM_017950.4(CCDC40):c.1531G>C (p.Glu511Gln) rs59978698
NM_017950.4(CCDC40):c.1562+1948C>T
NM_017950.4(CCDC40):c.1562+1971C>T
NM_017950.4(CCDC40):c.1889_1890delinsTG (p.Ala630Val) rs386799737
NM_017950.4(CCDC40):c.2163C>A (p.Ile721=) rs886038639
NM_017950.4(CCDC40):c.2627A>G (p.Glu876Gly)
NM_017950.4(CCDC40):c.2712-1G>T rs370706991
NM_017950.4(CCDC40):c.2830A>T (p.Lys944Ter)
NM_017950.4(CCDC40):c.2900G>A (p.Arg967His) rs61686936
NM_017950.4(CCDC40):c.2900G>T (p.Arg967Leu) rs61686936
NM_017950.4(CCDC40):c.2913C>T (p.Val971=)
NM_017950.4(CCDC40):c.3109C>G (p.Leu1037Val) rs886038640
NM_017950.4(CCDC40):c.489C>T (p.His163=)
NM_017950.4(CCDC40):c.677-3del rs886038641
NM_017950.4(CCDC40):c.856-35_856-24del

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