ClinVar Miner

List of variants in gene CCDC40 reported by Invitae

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Gene type:
ClinVar version:
Total variants: 180
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HGVS dbSNP
NC_000017.10:g.(?_78032273)_(78032799_?)del
NM_017950.4(CCDC40):c.1030C>G (p.Leu344Val) rs374337192
NM_017950.4(CCDC40):c.1068G>A (p.Ser356=) rs377156300
NM_017950.4(CCDC40):c.1075C>T (p.Arg359Cys)
NM_017950.4(CCDC40):c.1076G>A (p.Arg359His) rs373746597
NM_017950.4(CCDC40):c.1105G>A (p.Ala369Thr)
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln) rs61734951
NM_017950.4(CCDC40):c.1127C>G (p.Thr376Ser) rs372392201
NM_017950.4(CCDC40):c.1131C>T (p.Cys377=) rs74692882
NM_017950.4(CCDC40):c.1132G>A (p.Ala378Thr) rs116795025
NM_017950.4(CCDC40):c.1138G>A (p.Ala380Thr) rs199564182
NM_017950.4(CCDC40):c.113A>G (p.Asp38Gly) rs1060501718
NM_017950.4(CCDC40):c.1142A>G (p.Asn381Ser)
NM_017950.4(CCDC40):c.1144G>A (p.Glu382Lys) rs2289532
NM_017950.4(CCDC40):c.1187A>T (p.Asn396Ile) rs200701665
NM_017950.4(CCDC40):c.11C>T (p.Pro4Leu)
NM_017950.4(CCDC40):c.1200T>A (p.His400Gln) rs773046353
NM_017950.4(CCDC40):c.1220T>C (p.Ile407Thr) rs141185078
NM_017950.4(CCDC40):c.1248C>T (p.Arg416=) rs375199947
NM_017950.4(CCDC40):c.1249G>A (p.Val417Met) rs535461092
NM_017950.4(CCDC40):c.1259A>G (p.Gln420Arg) rs1060501720
NM_017950.4(CCDC40):c.1275C>T (p.Ala425=) rs145013523
NM_017950.4(CCDC40):c.1276G>T (p.Glu426Ter) rs775299709
NM_017950.4(CCDC40):c.1280C>T (p.Thr427Met) rs370720427
NM_017950.4(CCDC40):c.1292G>A (p.Arg431Gln)
NM_017950.4(CCDC40):c.1303G>A (p.Glu435Lys) rs62000409
NM_017950.4(CCDC40):c.1312A>T (p.Lys438Ter)
NM_017950.4(CCDC40):c.1338C>T (p.Leu446=) rs61734950
NM_017950.4(CCDC40):c.1345C>G (p.Arg449Gly) rs387907093
NM_017950.4(CCDC40):c.1372G>A (p.Ala458Thr) rs372976809
NM_017950.4(CCDC40):c.1379T>A (p.Phe460Tyr)
NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp)
NM_017950.4(CCDC40):c.1416del (p.Ile473fs) rs764011276
NM_017950.4(CCDC40):c.142G>A (p.Gly48Ser) rs2289526
NM_017950.4(CCDC40):c.1441-8G>T rs762319130
NM_017950.4(CCDC40):c.1445G>A (p.Cys482Tyr) rs367601192
NM_017950.4(CCDC40):c.1449C>T (p.Thr483=) rs116824266
NM_017950.4(CCDC40):c.1459G>A (p.Ala487Thr) rs185157579
NM_017950.4(CCDC40):c.1466G>T (p.Ser489Ile) rs61739354
NM_017950.4(CCDC40):c.1467C>A (p.Ser489Arg) rs200154414
NM_017950.4(CCDC40):c.1468G>A (p.Val490Met) rs200902099
NM_017950.4(CCDC40):c.1479G>T (p.Arg493Ser) rs201739201
NM_017950.4(CCDC40):c.147C>T (p.Ser49=) rs1301657020
NM_017950.4(CCDC40):c.1512G>A (p.Val504=) rs1312465619
NM_017950.4(CCDC40):c.1530C>G (p.Asp510Glu)
NM_017950.4(CCDC40):c.1531G>A (p.Glu511Lys) rs59978698
NM_017950.4(CCDC40):c.1591G>A (p.Asp531Asn)
NM_017950.4(CCDC40):c.1594G>A (p.Gly532Ser)
NM_017950.4(CCDC40):c.1618T>C (p.Ser540Pro)
NM_017950.4(CCDC40):c.1620del (p.Ile541fs) rs878855041
NM_017950.4(CCDC40):c.1645G>A (p.Glu549Lys) rs1414723148
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg) rs191736683
NM_017950.4(CCDC40):c.1714T>C (p.Cys572Arg) rs199786478
NM_017950.4(CCDC40):c.1721C>A (p.Thr574Asn)
NM_017950.4(CCDC40):c.1726C>G (p.Gln576Glu) rs864622323
NM_017950.4(CCDC40):c.1739A>G (p.Gln580Arg) rs200815406
NM_017950.4(CCDC40):c.1761G>A (p.Arg587=) rs560402881
NM_017950.4(CCDC40):c.1772A>G (p.Gln591Arg) rs1568706447
NM_017950.4(CCDC40):c.1806+8C>T rs182104049
NM_017950.4(CCDC40):c.1806+9G>A rs766278175
NM_017950.4(CCDC40):c.180G>A (p.Ala60=) rs185006459
NM_017950.4(CCDC40):c.1860C>T (p.Gly620=) rs571288423
NM_017950.4(CCDC40):c.1883C>T (p.Thr628Met)
NM_017950.4(CCDC40):c.1889_1890delinsTG (p.Ala630Val) rs386799737
NM_017950.4(CCDC40):c.1949A>C (p.Asn650Thr) rs201064110
NM_017950.4(CCDC40):c.1949A>G (p.Asn650Ser) rs201064110
NM_017950.4(CCDC40):c.1951C>T (p.Gln651Ter) rs387907092
NM_017950.4(CCDC40):c.2017G>A (p.Asp673Asn) rs115850223
NM_017950.4(CCDC40):c.2116A>G (p.Asn706Asp)
NM_017950.4(CCDC40):c.2118C>T (p.Asn706=) rs773715618
NM_017950.4(CCDC40):c.2152C>T (p.Arg718Trp) rs368063104
NM_017950.4(CCDC40):c.2183_2184del (p.Gly728fs) rs751191119
NM_017950.4(CCDC40):c.2226C>T (p.Ser742=) rs72849355
NM_017950.4(CCDC40):c.2235+1G>T rs1568709952
NM_017950.4(CCDC40):c.2251C>A (p.Pro751Thr) rs141343307
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro) rs117203086
NM_017950.4(CCDC40):c.2310G>A (p.Ala770=) rs376945782
NM_017950.4(CCDC40):c.232G>A (p.Glu78Lys) rs1568667170
NM_017950.4(CCDC40):c.2336G>A (p.Arg779His) rs183809462
NM_017950.4(CCDC40):c.2387C>G (p.Ala796Gly) rs139435501
NM_017950.4(CCDC40):c.2440C>T (p.Arg814Ter)
NM_017950.4(CCDC40):c.2450-1G>A rs774081599
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393
NM_017950.4(CCDC40):c.2551C>T (p.Arg851Trp) rs774273644
NM_017950.4(CCDC40):c.2552G>A (p.Arg851Gln)
NM_017950.4(CCDC40):c.2562G>A (p.Ser854=) rs760217617
NM_017950.4(CCDC40):c.257A>G (p.Tyr86Cys) rs202220442
NM_017950.4(CCDC40):c.2584C>T (p.Arg862Trp)
NM_017950.4(CCDC40):c.2585G>A (p.Arg862Gln) rs755608579
NM_017950.4(CCDC40):c.2591_2592delinsACCG (p.Thr864fs) rs1060501719
NM_017950.4(CCDC40):c.2604C>T (p.Phe868=) rs61749027
NM_017950.4(CCDC40):c.2608C>T (p.Arg870Cys) rs61749025
NM_017950.4(CCDC40):c.2612C>T (p.Ser871Leu) rs367596393
NM_017950.4(CCDC40):c.2647C>T (p.Gln883Ter)
NM_017950.4(CCDC40):c.2671G>T (p.Glu891Ter) rs773796940
NM_017950.4(CCDC40):c.2682G>A (p.Ala894=) rs4889815
NM_017950.4(CCDC40):c.2712-1G>A rs370706991
NM_017950.4(CCDC40):c.2712-1G>T rs370706991
NM_017950.4(CCDC40):c.2727T>C (p.Leu909=) rs1555593479
NM_017950.4(CCDC40):c.2784C>T (p.Ile928=) rs118143944
NM_017950.4(CCDC40):c.2785G>A (p.Gly929Ser) rs59896146
NM_017950.4(CCDC40):c.2798T>G (p.Ile933Ser) rs564504598
NM_017950.4(CCDC40):c.2823C>G (p.His941Gln) rs751091185
NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs) rs587778819
NM_017950.4(CCDC40):c.2852dup (p.Lys952fs) rs878855042
NM_017950.4(CCDC40):c.2868G>A (p.Lys956=) rs1982243
NM_017950.4(CCDC40):c.2892G>A (p.Ala964=) rs146360951
NM_017950.4(CCDC40):c.29+1_29+13dup rs771732758
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.2911G>A (p.Val971Ile) rs746632559
NM_017950.4(CCDC40):c.2958C>T (p.Leu986=) rs78945041
NM_017950.4(CCDC40):c.2962C>T (p.Arg988Cys)
NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn) rs200958035
NM_017950.4(CCDC40):c.2996G>A (p.Arg999His) rs201293301
NM_017950.4(CCDC40):c.2999G>A (p.Arg1000Gln)
NM_017950.4(CCDC40):c.3004dup (p.Ile1002fs)
NM_017950.4(CCDC40):c.3021+8G>A rs1434081760
NM_017950.4(CCDC40):c.3027C>T (p.Thr1009=) rs79588289
NM_017950.4(CCDC40):c.3038C>T (p.Thr1013Ile) rs1257141883
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile) rs117307093
NM_017950.4(CCDC40):c.3066A>G (p.Thr1022=) rs534912798
NM_017950.4(CCDC40):c.3097A>T (p.Lys1033Ter) rs863224519
NM_017950.4(CCDC40):c.3109C>G (p.Leu1037Val) rs886038640
NM_017950.4(CCDC40):c.3129del (p.Phe1044fs) rs1418585908
NM_017950.4(CCDC40):c.3142G>A (p.Glu1048Lys) rs997113449
NM_017950.4(CCDC40):c.3147C>T (p.Ala1049=) rs1028095921
NM_017950.4(CCDC40):c.3157del (p.Arg1053fs) rs1567818236
NM_017950.4(CCDC40):c.3176G>A (p.Arg1059Gln) rs200902434
NM_017950.4(CCDC40):c.3180+6C>G rs753716586
NM_017950.4(CCDC40):c.3181-2A>G rs762664261
NM_017950.4(CCDC40):c.3216T>G (p.Leu1072=) rs758698381
NM_017950.4(CCDC40):c.3245G>A (p.Arg1082His) rs773033304
NM_017950.4(CCDC40):c.3250G>A (p.Val1084Met) rs546314844
NM_017950.4(CCDC40):c.3250G>C (p.Val1084Leu)
NM_017950.4(CCDC40):c.3266C>A (p.Ser1089Tyr)
NM_017950.4(CCDC40):c.3277C>G (p.Leu1093Val) rs1060501721
NM_017950.4(CCDC40):c.3290G>A (p.Arg1097His)
NM_017950.4(CCDC40):c.32C>G (p.Ser11Cys) rs111822347
NM_017950.4(CCDC40):c.3322G>A (p.Ala1108Thr) rs763389968
NM_017950.4(CCDC40):c.3337C>T (p.Arg1113Cys) rs201250105
NM_017950.4(CCDC40):c.3344G>A (p.Arg1115Gln)
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys) rs145595957
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala) rs201709592
NM_017950.4(CCDC40):c.3354C>A (p.Tyr1118Ter) rs374909386
NM_017950.4(CCDC40):c.3363C>A (p.Phe1121Leu)
NM_017950.4(CCDC40):c.3365A>C (p.Gln1122Pro) rs778612110
NM_017950.4(CCDC40):c.3408C>T (p.Leu1136=) rs186591691
NM_017950.4(CCDC40):c.3424T>C (p.Ser1142Pro) rs148900528
NM_017950.4(CCDC40):c.355C>A (p.Pro119Thr) rs750628862
NM_017950.4(CCDC40):c.39G>A (p.Pro13=) rs777639251
NM_017950.4(CCDC40):c.415C>T (p.Gln139Ter)
NM_017950.4(CCDC40):c.424C>T (p.Gln142Ter) rs1568667609
NM_017950.4(CCDC40):c.490G>A (p.Gly164Arg) rs770564150
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.592A>G (p.Met198Val) rs774843139
NM_017950.4(CCDC40):c.598G>A (p.Val200Ile) rs200292678
NM_017950.4(CCDC40):c.613C>T (p.Arg205Trp) rs753704549
NM_017950.4(CCDC40):c.630C>T (p.Ser210=) rs117419007
NM_017950.4(CCDC40):c.631G>A (p.Asp211Asn) rs150615436
NM_017950.4(CCDC40):c.636C>T (p.Ile212=) rs754379326
NM_017950.4(CCDC40):c.637G>A (p.Glu213Lys) rs372360189
NM_017950.4(CCDC40):c.648C>T (p.Asp216=) rs375350606
NM_017950.4(CCDC40):c.660C>T (p.Phe220=) rs200678214
NM_017950.4(CCDC40):c.662T>C (p.Val221Ala) rs760951742
NM_017950.4(CCDC40):c.676+2_676+3dup
NM_017950.4(CCDC40):c.676+5C>A rs776691453
NM_017950.4(CCDC40):c.682C>T (p.Pro228Ser) rs878855043
NM_017950.4(CCDC40):c.697G>A (p.Asp233Asn)
NM_017950.4(CCDC40):c.804C>T (p.Asp268=) rs756325484
NM_017950.4(CCDC40):c.850G>C (p.Asp284His) rs201042940
NM_017950.4(CCDC40):c.855+1G>A rs1346603171
NM_017950.4(CCDC40):c.856-9T>C rs1193011376
NM_017950.4(CCDC40):c.902G>A (p.Arg301Gln) rs191632512
NM_017950.4(CCDC40):c.931C>A (p.Gln311Lys) rs1555891851
NM_017950.4(CCDC40):c.940-2A>G rs750708201
NM_017950.4(CCDC40):c.946G>A (p.Ala316Thr) rs61998241
NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter) rs754867753
NM_017950.4(CCDC40):c.966C>T (p.Ala322=) rs369089505

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