ClinVar Miner

List of variants in gene CCDC40 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 166
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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.1563-262T>C rs4889952 0.81784
NM_017950.4(CCDC40):c.2832+332G>C rs4889953 0.68083
NM_017950.4(CCDC40):c.2236-251A>G rs2017601 0.66356
NM_017950.4(CCDC40):c.2450-89A>C rs11150839 0.65974
NM_017950.4(CCDC40):c.2450-53G>A rs11150840 0.65886
NM_017950.4(CCDC40):c.2450-265T>G rs11150836 0.65857
NM_017950.4(CCDC40):c.2832+720G>C rs9905685 0.65747
NM_017950.4(CCDC40):c.1890T>G (p.Ala630=) rs35578653 0.52425
NM_017950.4(CCDC40):c.677-310T>C rs3829605 0.44191
NM_017950.4(CCDC40):c.2711+78A>C rs12942049 0.35816
NM_017950.4(CCDC40):c.3181-210T>C rs55662397 0.35387
NM_017950.4(CCDC40):c.3181-186G>A rs56176300 0.35288
NM_017950.4(CCDC40):c.3022-273C>T rs58526201 0.35057
NM_017950.4(CCDC40):c.3180+125C>A rs56968343 0.35033
NM_017950.4(CCDC40):c.553-41A>G rs7207441 0.34994
NM_017950.4(CCDC40):c.676+292A>G rs7211986 0.34992
NM_017950.4(CCDC40):c.676+13T>C rs7212525 0.34974
NM_017950.4(CCDC40):c.856-91G>A rs7219552 0.33412
NM_017950.4(CCDC40):c.676+218C>A rs7223648 0.32971
NM_017950.4(CCDC40):c.676+307C>T rs7223806 0.32968
NM_017950.4(CCDC40):c.677-137G>A rs2289529 0.32932
NM_017950.4(CCDC40):c.1159+239C>A rs9890752 0.32930
NM_017950.4(CCDC40):c.855+198C>G rs28404913 0.32907
NM_017950.4(CCDC40):c.855+218A>C rs28484809 0.32907
NM_017950.4(CCDC40):c.855+297A>G rs28645791 0.32873
NM_017950.4(CCDC40):c.3180+45A>G rs59252872 0.32210
NM_017950.4(CCDC40):c.30-231A>G rs3764440 0.29643
NM_017950.4(CCDC40):c.2833-114C>T rs1982244 0.25925
NM_017950.4(CCDC40):c.2832+313A>G rs7210679 0.25232
NC_000017.11:g.80036451G>T rs3764441 0.23449
NM_017950.4(CCDC40):c.3021+74C>A rs1561810 0.23165
NM_017950.4(CCDC40):c.553-136G>T rs77046309 0.22661
NM_017950.4(CCDC40):c.553-135C>T rs80017238 0.22656
NM_017950.4(CCDC40):c.677-4C>G rs2289530 0.19337
NM_017950.4(CCDC40):c.677-308G>A rs3829604 0.19239
NM_017950.4(CCDC40):c.1159+12C>T rs2289533 0.19106
NM_017950.4(CCDC40):c.29+58C>A rs3752041 0.18699
NM_017950.4(CCDC40):c.3022-48C>T rs72849388 0.18249
NM_017950.4(CCDC40):c.2832+283A>G rs7210665 0.18041
NM_017950.4(CCDC40):c.2832+281A>G rs7210664 0.17979
NM_017950.4(CCDC40):c.1562+214G>A rs2289534 0.17920
NM_017950.4(CCDC40):c.1440+136C>T rs11654770 0.17915
NM_017950.4(CCDC40):c.1990-110G>A rs715041 0.14730
NM_017950.3(CCDC40):c.-49C>A rs3752042 0.12603
NM_017950.4(CCDC40):c.30-80G>A rs3764438 0.12574
NM_017950.4(CCDC40):c.30-191G>T rs3764439 0.12565
NM_017950.4(CCDC40):c.2449+187T>G rs57153705 0.11917
NM_017950.4(CCDC40):c.2323G>A (p.Val775Met) rs60684213 0.11874
NM_017950.4(CCDC40):c.2832+701C>T rs73436194 0.11658
NM_017950.4(CCDC40):c.2449+211G>A rs73436179 0.11514
NM_017950.4(CCDC40):c.2449+94G>A rs73436177 0.11503
NM_017950.4(CCDC40):c.1440+229C>T rs66942325 0.10487
NM_017950.4(CCDC40):c.873C>T (p.Phe291=) rs2289531 0.09951
NM_017950.4(CCDC40):c.1441-106A>G rs80207190 0.09748
NM_017950.4(CCDC40):c.1563-237C>T rs113095110 0.08706
NM_017950.4(CCDC40):c.1889C>T (p.Ala630Val) rs61749058 0.08699
NM_017950.4(CCDC40):c.3021+117G>A rs12601244 0.07975
NM_017950.4(CCDC40):c.2450-132C>T rs12601285 0.07928
NM_017950.4(CCDC40):c.2711+209G>A rs112484891 0.07377
NM_017950.4(CCDC40):c.29+220C>T rs3752040 0.06799
NM_017950.4(CCDC40):c.1562+33G>A rs10083858 0.06324
NM_017950.4(CCDC40):c.677-188T>C rs8074779 0.06276
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.552+174G>A rs7502454 0.05257
NM_017950.4(CCDC40):c.553-17G>C rs7223400 0.04712
NM_017950.4(CCDC40):c.1440+140C>A rs75047487 0.04618
NM_017950.4(CCDC40):c.94-200A>G rs142248358 0.04618
NM_017950.4(CCDC40):c.1338C>T (p.Leu446=) rs61734950 0.04617
NM_017950.4(CCDC40):c.2712-96G>A rs55987222 0.04313
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.1318-76T>C rs78323211 0.02733
NM_017950.4(CCDC40):c.1562+266G>A rs117430046 0.02418
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.1441-314C>T rs10083842 0.01826
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.855+45G>A rs114589110 0.01638
NM_017950.4(CCDC40):c.1131C>T (p.Cys377=) rs74692882 0.01622
NM_017950.4(CCDC40):c.676+108T>C rs114632360 0.01622
NM_017950.4(CCDC40):c.1562+308T>C rs115155178 0.01614
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.2832+349A>G rs371158080 0.01506
NM_017950.4(CCDC40):c.1160-57G>C rs146646353 0.01444
NM_017950.4(CCDC40):c.3180+249T>C rs77024302 0.01120
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.2832+413A>G rs374493149 0.00730
NM_017950.4(CCDC40):c.30-57G>A rs146081939 0.00637
NM_017950.4(CCDC40):c.1317+90C>T rs114988722 0.00586
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.3181-32T>C rs147702876 0.00503
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.3408C>T (p.Leu1136=) rs186591691 0.00309
NM_017950.4(CCDC40):c.93+238G>A rs143175626 0.00300
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg) rs191736683 0.00200
NM_017950.4(CCDC40):c.2832+463_2832+476del rs781279746 0.00156
NM_017950.4(CCDC40):c.850G>C (p.Asp284His) rs201042940 0.00099
NM_017950.4(CCDC40):c.1520A>T (p.Lys507Met) rs563467821 0.00039
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_017950.4(CCDC40):c.772A>G (p.Met258Val) rs200614903 0.00014
NM_017950.4(CCDC40):c.1076G>A (p.Arg359His) rs373746597 0.00012
NM_017950.4(CCDC40):c.1057G>A (p.Ala353Thr) rs202123909 0.00011
NM_017950.4(CCDC40):c.2911G>A (p.Val971Ile) rs746632559 0.00009
NM_017950.4(CCDC40):c.1883C>T (p.Thr628Met) rs376363442 0.00006
NM_017950.4(CCDC40):c.940-7G>A rs727504972 0.00004
NM_017950.4(CCDC40):c.2939A>T (p.Lys980Met) rs201104817 0.00003
NM_017950.4(CCDC40):c.308C>T (p.Pro103Leu) rs769458274 0.00003
NM_017950.4(CCDC40):c.1814T>C (p.Met605Thr) rs767290092 0.00002
NM_017950.4(CCDC40):c.2798T>G (p.Ile933Ser) rs564504598 0.00001
NM_017950.4(CCDC40):c.1085A>G (p.Lys362Arg) rs2143617296
NM_017950.4(CCDC40):c.1441-137C>A rs78696842
NM_017950.4(CCDC40):c.1481G>A (p.Arg494His)
NM_017950.4(CCDC40):c.1562+124G>A
NM_017950.4(CCDC40):c.1562+64C>T rs56126512
NM_017950.4(CCDC40):c.1563-158AAAT[10] rs60850594
NM_017950.4(CCDC40):c.1563-158AAAT[11] rs60850594
NM_017950.4(CCDC40):c.1563-158AAAT[12] rs60850594
NM_017950.4(CCDC40):c.1563-158AAAT[13] rs60850594
NM_017950.4(CCDC40):c.1563-158AAAT[9] rs60850594
NM_017950.4(CCDC40):c.1714T>C (p.Cys572Arg) rs199786478
NM_017950.4(CCDC40):c.1806+5G>A
NM_017950.4(CCDC40):c.1885G>C (p.Asp629His) rs2038461062
NM_017950.4(CCDC40):c.1989+192C>T rs79483216
NM_017950.4(CCDC40):c.2450-136G>C rs11150838
NM_017950.4(CCDC40):c.2450-188_2450-184del rs57113516
NM_017950.4(CCDC40):c.2712-255TC[4] rs71163917
NM_017950.4(CCDC40):c.2832+274A>G rs7210658
NM_017950.4(CCDC40):c.2832+274_2832+337del rs2143760779
NM_017950.4(CCDC40):c.2832+315G>A rs567724903
NM_017950.4(CCDC40):c.2832+332_2832+363del rs1567813085
NM_017950.4(CCDC40):c.2832+332_2832+395del rs1567813101
NM_017950.4(CCDC40):c.2832+381G>A rs7207166
NM_017950.4(CCDC40):c.2832+381_2832+412del rs1384333635
NM_017950.4(CCDC40):c.2832+381_2832+473del rs1567813490
NM_017950.4(CCDC40):c.2832+462_2832+463insCAC rs10693712
NM_017950.4(CCDC40):c.2832+462_2832+490del rs758946774
NM_017950.4(CCDC40):c.2832+535_2832+597del rs71163918
NM_017950.4(CCDC40):c.2832+578_2832+609del rs753396712
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.2998C>T (p.Arg1000Trp)
NM_017950.4(CCDC40):c.3022-146G>A
NM_017950.4(CCDC40):c.3181-103C>T
NM_017950.4(CCDC40):c.3181-125G>A rs55990144
NM_017950.4(CCDC40):c.3181-129C>T
NM_017950.4(CCDC40):c.3181-225dup rs879645135
NM_017950.4(CCDC40):c.3181-326T>G rs56120040
NM_017950.4(CCDC40):c.3229G>A (p.Ala1077Thr)
NM_017950.4(CCDC40):c.552+278G>A rs7503000
NM_017950.4(CCDC40):c.553-137G>T rs76104475
NM_017950.4(CCDC40):c.676+202C>T rs78967608
NM_017950.4(CCDC40):c.676+328A>G rs7212117
NM_017950.4(CCDC40):c.676+59T>C rs7212643
NM_017950.4(CCDC40):c.93+195del rs201977406
NM_017950.4(CCDC40):c.93+215C>T rs138108510
NM_017950.4(CCDC40):c.93+4A>G

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