ClinVar Miner

List of variants in gene CCDC40 reported as likely benign for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 281
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HGVS dbSNP gnomAD frequency
NM_017950.3(CCDC40):c.-36C>T rs73437681 0.05525
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro) rs117203086 0.01848
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.2608C>T (p.Arg870Cys) rs61749025 0.00769
NM_017950.4(CCDC40):c.1303G>A (p.Glu435Lys) rs62000409 0.00649
NM_017950.4(CCDC40):c.631G>A (p.Asp211Asn) rs150615436 0.00414
NM_017950.4(CCDC40):c.2336G>A (p.Arg779His) rs183809462 0.00395
NM_017950.4(CCDC40):c.3424T>C (p.Ser1142Pro) rs148900528 0.00366
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys) rs145595957 0.00365
NM_017950.4(CCDC40):c.2017G>A (p.Asp673Asn) rs115850223 0.00301
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala) rs201709592 0.00245
NM_017950.4(CCDC40):c.1739A>G (p.Gln580Arg) rs200815406 0.00200
NM_017950.4(CCDC40):c.2251C>A (p.Pro751Thr) rs141343307 0.00161
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile) rs117307093 0.00123
NM_017950.4(CCDC40):c.648C>T (p.Asp216=) rs375350606 0.00113
NM_017950.4(CCDC40):c.3249C>T (p.Tyr1083=) rs145998578 0.00083
NM_017950.4(CCDC40):c.1201C>G (p.Leu401Val) rs201126001 0.00081
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.2061G>A (p.Arg687=) rs189617808 0.00058
NM_017950.4(CCDC40):c.2226C>T (p.Ser742=) rs72849355 0.00054
NM_017950.4(CCDC40):c.1520A>T (p.Lys507Met) rs563467821 0.00039
NM_017950.4(CCDC40):c.*633C>G rs117359231 0.00036
NM_017950.4(CCDC40):c.1824G>A (p.Thr608=) rs371383125 0.00036
NM_017950.4(CCDC40):c.1248C>T (p.Arg416=) rs375199947 0.00034
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.384A>G (p.Ala128=) rs375586063 0.00024
NM_017950.4(CCDC40):c.1459G>A (p.Ala487Thr) rs185157579 0.00022
NM_017950.4(CCDC40):c.2229G>C (p.Glu743Asp) rs377219039 0.00020
NM_017950.4(CCDC40):c.1807-10T>G rs369273325 0.00016
NM_017950.4(CCDC40):c.1897C>T (p.Arg633Trp) rs200551690 0.00016
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.2601G>A (p.Glu867=) rs200841842 0.00016
NM_017950.4(CCDC40):c.1057G>A (p.Ala353Thr) rs202123909 0.00011
NM_017950.4(CCDC40):c.1221C>T (p.Ile407=) rs760734578 0.00011
NM_017950.4(CCDC40):c.3021+13G>A rs762011731 0.00011
NM_017950.4(CCDC40):c.3348C>T (p.Asp1116=) rs377559639 0.00011
NM_017950.4(CCDC40):c.2293G>A (p.Glu765Lys) rs199850214 0.00010
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.696C>T (p.Pro232=) rs200710012 0.00010
NM_017950.4(CCDC40):c.966C>T (p.Ala322=) rs369089505 0.00010
NM_017950.4(CCDC40):c.1468G>A (p.Val490Met) rs200902099 0.00009
NM_017950.4(CCDC40):c.1563-15G>A rs752972291 0.00009
NM_017950.4(CCDC40):c.2235+15A>G rs566067180 0.00009
NM_017950.4(CCDC40):c.2911G>A (p.Val971Ile) rs746632559 0.00009
NM_017950.4(CCDC40):c.1068G>A (p.Ser356=) rs377156300 0.00008
NM_017950.4(CCDC40):c.1806+15G>A rs767093580 0.00008
NM_017950.4(CCDC40):c.2325G>A (p.Val775=) rs1483877024 0.00008
NM_017950.4(CCDC40):c.1164G>A (p.Ala388=) rs367861877 0.00007
NM_017950.4(CCDC40):c.1441-8G>T rs762319130 0.00007
NM_017950.4(CCDC40):c.660C>T (p.Phe220=) rs200678214 0.00007
NM_017950.4(CCDC40):c.1372G>A (p.Ala458Thr) rs372976809 0.00006
NM_017950.4(CCDC40):c.1562+12C>T rs369729537 0.00006
NM_017950.4(CCDC40):c.2449+19G>A rs537011469 0.00006
NM_017950.4(CCDC40):c.2616G>A (p.Leu872=) rs372369514 0.00006
NM_017950.4(CCDC40):c.3288G>A (p.Glu1096=) rs373348755 0.00006
NM_017950.4(CCDC40):c.3354C>T (p.Tyr1118=) rs374909386 0.00006
NM_017950.4(CCDC40):c.39G>A (p.Pro13=) rs777639251 0.00006
NM_017950.4(CCDC40):c.636C>T (p.Ile212=) rs754379326 0.00006
NM_017950.4(CCDC40):c.1159+9A>G rs754557686 0.00005
NM_017950.4(CCDC40):c.1806+9G>A rs766278175 0.00005
NM_017950.4(CCDC40):c.1860C>T (p.Gly620=) rs571288423 0.00005
NM_017950.4(CCDC40):c.1989+19G>A rs768348648 0.00005
NM_017950.4(CCDC40):c.2841C>T (p.Leu947=) rs573028412 0.00005
NM_017950.4(CCDC40):c.1160-10C>T rs757777653 0.00004
NM_017950.4(CCDC40):c.1761G>A (p.Arg587=) rs560402881 0.00004
NM_017950.4(CCDC40):c.2853G>A (p.Leu951=) rs768280461 0.00004
NM_017950.4(CCDC40):c.29+7C>G rs558574170 0.00004
NM_017950.4(CCDC40):c.3181-15T>C rs376546339 0.00004
NM_017950.4(CCDC40):c.855+4A>G rs138001923 0.00004
NM_017950.4(CCDC40):c.882C>T (p.Ala294=) rs528463057 0.00004
NM_017950.4(CCDC40):c.940-7G>A rs727504972 0.00004
NM_017950.4(CCDC40):c.1458C>T (p.Asp486=) rs752463994 0.00003
NM_017950.4(CCDC40):c.2013C>T (p.Asn671=) rs375603538 0.00003
NM_017950.4(CCDC40):c.21G>A (p.Ala7=) rs766369570 0.00003
NM_017950.4(CCDC40):c.2460G>A (p.Glu820=) rs369702545 0.00003
NM_017950.4(CCDC40):c.2619+9G>A rs752961530 0.00003
NM_017950.4(CCDC40):c.2925C>T (p.Ala975=) rs776232255 0.00003
NM_017950.4(CCDC40):c.3258G>C (p.Leu1086=) rs759098835 0.00003
NM_017950.4(CCDC40):c.336G>A (p.Thr112=) rs539062213 0.00003
NM_017950.4(CCDC40):c.438C>T (p.Thr146=) rs147879748 0.00003
NM_017950.4(CCDC40):c.676+11C>G rs761925173 0.00003
NM_017950.4(CCDC40):c.677-8C>T rs762961824 0.00003
NM_017950.4(CCDC40):c.141C>T (p.Val47=) rs756511342 0.00002
NM_017950.4(CCDC40):c.2292C>T (p.Asp764=) rs758047721 0.00002
NM_017950.4(CCDC40):c.2298C>T (p.His766=) rs754496723 0.00002
NM_017950.4(CCDC40):c.2328C>T (p.Thr776=) rs1225610254 0.00002
NM_017950.4(CCDC40):c.2967C>T (p.Thr989=) rs199575834 0.00002
NM_017950.4(CCDC40):c.3021+8G>A rs1434081760 0.00002
NM_017950.4(CCDC40):c.3045C>T (p.Thr1015=) rs1474341938 0.00002
NM_017950.4(CCDC40):c.3066A>G (p.Thr1022=) rs534912798 0.00002
NM_017950.4(CCDC40):c.399C>T (p.Ser133=) rs371207249 0.00002
NM_017950.4(CCDC40):c.759C>T (p.Thr253=) rs183808038 0.00002
NM_017950.4(CCDC40):c.831G>A (p.Gln277=) rs771932934 0.00002
NM_017950.4(CCDC40):c.1160-9G>A rs779328167 0.00001
NM_017950.4(CCDC40):c.1239C>T (p.Asp413=) rs751991087 0.00001
NM_017950.4(CCDC40):c.1240G>A (p.Asp414Asn) rs755164687 0.00001
NM_017950.4(CCDC40):c.1246C>T (p.Arg416Cys) rs1489341724 0.00001
NM_017950.4(CCDC40):c.1413C>A (p.Thr471=) rs2037824553 0.00001
NM_017950.4(CCDC40):c.1509G>C (p.Leu503=) rs200124291 0.00001
NM_017950.4(CCDC40):c.1512G>A (p.Val504=) rs1312465619 0.00001
NM_017950.4(CCDC40):c.1593C>T (p.Asp531=) rs746661400 0.00001
NM_017950.4(CCDC40):c.168C>T (p.Val56=) rs770942016 0.00001
NM_017950.4(CCDC40):c.1884G>A (p.Thr628=) rs748572237 0.00001
NM_017950.4(CCDC40):c.2118C>T (p.Asn706=) rs773715618 0.00001
NM_017950.4(CCDC40):c.2124C>T (p.Leu708=) rs1598538668 0.00001
NM_017950.4(CCDC40):c.2310G>A (p.Ala770=) rs376945782 0.00001
NM_017950.4(CCDC40):c.2322G>A (p.Gln774=) rs1327058477 0.00001
NM_017950.4(CCDC40):c.258T>C (p.Tyr86=) rs745925890 0.00001
NM_017950.4(CCDC40):c.2798T>G (p.Ile933Ser) rs564504598 0.00001
NM_017950.4(CCDC40):c.29+8G>A rs772706089 0.00001
NM_017950.4(CCDC40):c.2955G>A (p.Ala985=) rs201511980 0.00001
NM_017950.4(CCDC40):c.3147C>T (p.Ala1049=) rs1028095921 0.00001
NM_017950.4(CCDC40):c.315G>A (p.Gly105=) rs1398449246 0.00001
NM_017950.4(CCDC40):c.3180+7G>A rs764901506 0.00001
NM_017950.4(CCDC40):c.3216T>G (p.Leu1072=) rs758698381 0.00001
NM_017950.4(CCDC40):c.3245G>A (p.Arg1082His) rs773033304 0.00001
NM_017950.4(CCDC40):c.624C>T (p.His208=) rs370581662 0.00001
NM_017950.4(CCDC40):c.627G>C (p.Gly209=) rs758242176 0.00001
NM_017950.4(CCDC40):c.708C>T (p.Pro236=) rs769809719 0.00001
NM_017950.4(CCDC40):c.780G>A (p.Glu260=) rs893159224 0.00001
NM_017950.4(CCDC40):c.804C>T (p.Asp268=) rs756325484 0.00001
NM_017950.4(CCDC40):c.939+11G>A rs754748154 0.00001
NM_017950.4(CCDC40):c.1014G>A (p.Leu338=)
NM_017950.4(CCDC40):c.102A>G (p.Pro34=)
NM_017950.4(CCDC40):c.1068G>C (p.Ser356=)
NM_017950.4(CCDC40):c.1083G>A (p.Gln361=) rs1598488399
NM_017950.4(CCDC40):c.1104C>T (p.Ala368=)
NM_017950.4(CCDC40):c.1110C>T (p.Arg370=)
NM_017950.4(CCDC40):c.1137C>T (p.Ala379=)
NM_017950.4(CCDC40):c.1159+13G>A
NM_017950.4(CCDC40):c.1159+15C>T
NM_017950.4(CCDC40):c.1160-13C>T rs2037808461
NM_017950.4(CCDC40):c.1160-15C>T
NM_017950.4(CCDC40):c.1160-17C>T
NM_017950.4(CCDC40):c.1160-4G>A
NM_017950.4(CCDC40):c.1263G>A (p.Val421=)
NM_017950.4(CCDC40):c.1293G>A (p.Arg431=)
NM_017950.4(CCDC40):c.12G>C (p.Pro4=)
NM_017950.4(CCDC40):c.1317+16G>A
NM_017950.4(CCDC40):c.1318-14A>G
NM_017950.4(CCDC40):c.1318-19T>C
NM_017950.4(CCDC40):c.1318-5C>G
NM_017950.4(CCDC40):c.1326T>C (p.Tyr442=)
NM_017950.4(CCDC40):c.1440+17C>A
NM_017950.4(CCDC40):c.1440+17C>T
NM_017950.4(CCDC40):c.1440+19G>A
NM_017950.4(CCDC40):c.1441-13C>G
NM_017950.4(CCDC40):c.1467C>T (p.Ser489=) rs200154414
NM_017950.4(CCDC40):c.147C>T (p.Ser49=) rs1301657020
NM_017950.4(CCDC40):c.1485C>A (p.Ile495=) rs771128827
NM_017950.4(CCDC40):c.1527C>T (p.Arg509=)
NM_017950.4(CCDC40):c.1530C>T (p.Asp510=)
NM_017950.4(CCDC40):c.1531G>A (p.Glu511Lys) rs59978698
NM_017950.4(CCDC40):c.1536G>A (p.Ala512=)
NM_017950.4(CCDC40):c.1557G>A (p.Ala519=)
NM_017950.4(CCDC40):c.1562+2003C>A
NM_017950.4(CCDC40):c.1563-16C>T
NM_017950.4(CCDC40):c.1563-5T>C rs2143733765
NM_017950.4(CCDC40):c.1602T>A (p.Ile534=)
NM_017950.4(CCDC40):c.1656G>A (p.Ala552=)
NM_017950.4(CCDC40):c.1659C>T (p.Ser553=)
NM_017950.4(CCDC40):c.1662C>A (p.Ile554=)
NM_017950.4(CCDC40):c.1680G>A (p.Thr560=)
NM_017950.4(CCDC40):c.174C>A (p.Thr58=)
NM_017950.4(CCDC40):c.1824G>T (p.Thr608=) rs371383125
NM_017950.4(CCDC40):c.1848A>G (p.Gln616=)
NM_017950.4(CCDC40):c.18C>T (p.Gly6=)
NM_017950.4(CCDC40):c.1953G>A (p.Gln651=)
NM_017950.4(CCDC40):c.1968G>T (p.Leu656=)
NM_017950.4(CCDC40):c.207G>T (p.Val69=)
NM_017950.4(CCDC40):c.2160G>A (p.Thr720=)
NM_017950.4(CCDC40):c.2169C>A (p.Ile723=)
NM_017950.4(CCDC40):c.2169C>T (p.Ile723=) rs200641382
NM_017950.4(CCDC40):c.2211G>T (p.Leu737=)
NM_017950.4(CCDC40):c.2235+11A>G
NM_017950.4(CCDC40):c.2236-6G>A rs1402665990
NM_017950.4(CCDC40):c.2236-8C>T
NM_017950.4(CCDC40):c.225A>G (p.Ala75=)
NM_017950.4(CCDC40):c.2289C>T (p.Ile763=)
NM_017950.4(CCDC40):c.240A>G (p.Glu80=) rs2143576891
NM_017950.4(CCDC40):c.2449+12C>T
NM_017950.4(CCDC40):c.2449+13G>A
NM_017950.4(CCDC40):c.2449+15G>A
NM_017950.4(CCDC40):c.2449+9C>T
NM_017950.4(CCDC40):c.2450-4A>G
NM_017950.4(CCDC40):c.2472G>A (p.Lys824=)
NM_017950.4(CCDC40):c.2506C>T (p.Leu836=)
NM_017950.4(CCDC40):c.2514C>T (p.Asn838=)
NM_017950.4(CCDC40):c.2562G>A (p.Ser854=) rs760217617
NM_017950.4(CCDC40):c.2571G>A (p.Leu857=)
NM_017950.4(CCDC40):c.2592A>G (p.Thr864=)
NM_017950.4(CCDC40):c.2610C>G (p.Arg870=)
NM_017950.4(CCDC40):c.2613G>A (p.Ser871=)
NM_017950.4(CCDC40):c.2614C>T (p.Leu872=) rs1351266176
NM_017950.4(CCDC40):c.2619+10T>C
NM_017950.4(CCDC40):c.2619+16C>T
NM_017950.4(CCDC40):c.2619+17G>A
NM_017950.4(CCDC40):c.2619+17G>T
NM_017950.4(CCDC40):c.2619+19A>G
NM_017950.4(CCDC40):c.2670C>T (p.Ser890=) rs371516381
NM_017950.4(CCDC40):c.267T>C (p.Ala89=)
NM_017950.4(CCDC40):c.2711+11G>T rs1434924240
NM_017950.4(CCDC40):c.2712-17C>T
NM_017950.4(CCDC40):c.2727T>C (p.Leu909=) rs1555593479
NM_017950.4(CCDC40):c.2778C>T (p.Ser926=)
NM_017950.4(CCDC40):c.2832+16C>T
NM_017950.4(CCDC40):c.2832+17G>A
NM_017950.4(CCDC40):c.2832+332_2832+395del rs1567813101
NM_017950.4(CCDC40):c.2874C>T (p.Ile958=)
NM_017950.4(CCDC40):c.288C>T (p.Tyr96=)
NM_017950.4(CCDC40):c.29+12C>G
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.2925C>G (p.Ala975=)
NM_017950.4(CCDC40):c.2931G>T (p.Gly977=)
NM_017950.4(CCDC40):c.2967C>G (p.Thr989=) rs199575834
NM_017950.4(CCDC40):c.30-7A>C
NM_017950.4(CCDC40):c.3022-4C>G
NM_017950.4(CCDC40):c.3022-6T>C
NM_017950.4(CCDC40):c.3027C>A (p.Thr1009=)
NM_017950.4(CCDC40):c.3063A>G (p.Glu1021=)
NM_017950.4(CCDC40):c.3093A>C (p.Leu1031=)
NM_017950.4(CCDC40):c.309G>A (p.Pro103=)
NM_017950.4(CCDC40):c.3132C>T (p.Phe1044=)
NM_017950.4(CCDC40):c.3138A>T (p.Thr1046=)
NM_017950.4(CCDC40):c.3159G>T (p.Arg1053=)
NM_017950.4(CCDC40):c.3181-4C>A
NM_017950.4(CCDC40):c.3181-4C>G
NM_017950.4(CCDC40):c.3198G>A (p.Val1066=)
NM_017950.4(CCDC40):c.3240G>A (p.Glu1080=)
NM_017950.4(CCDC40):c.3255C>T (p.Phe1085=)
NM_017950.4(CCDC40):c.327T>C (p.Ala109=)
NM_017950.4(CCDC40):c.3291C>T (p.Arg1097=)
NM_017950.4(CCDC40):c.3298C>T (p.Leu1100=)
NM_017950.4(CCDC40):c.3321C>T (p.Ile1107=)
NM_017950.4(CCDC40):c.3343C>A (p.Arg1115=)
NM_017950.4(CCDC40):c.3363C>T (p.Phe1121=)
NM_017950.4(CCDC40):c.336G>T (p.Thr112=)
NM_017950.4(CCDC40):c.3408C>G (p.Leu1136=) rs186591691
NM_017950.4(CCDC40):c.345G>A (p.Pro115=)
NM_017950.4(CCDC40):c.390T>C (p.Asp130=)
NM_017950.4(CCDC40):c.408T>C (p.Ala136=)
NM_017950.4(CCDC40):c.414C>T (p.Leu138=)
NM_017950.4(CCDC40):c.462G>A (p.Arg154=)
NM_017950.4(CCDC40):c.489C>T (p.His163=)
NM_017950.4(CCDC40):c.48A>G (p.Gly16=) rs2143570184
NM_017950.4(CCDC40):c.490G>A (p.Gly164Arg) rs770564150
NM_017950.4(CCDC40):c.490G>C (p.Gly164Arg)
NM_017950.4(CCDC40):c.504G>T (p.Pro168=)
NM_017950.4(CCDC40):c.534G>A (p.Gly178=) rs2143578294
NM_017950.4(CCDC40):c.553-10C>G
NM_017950.4(CCDC40):c.564A>G (p.Thr188=) rs2037448406
NM_017950.4(CCDC40):c.672G>A (p.Glu224=)
NM_017950.4(CCDC40):c.676+9C>A
NM_017950.4(CCDC40):c.677-16C>T
NM_017950.4(CCDC40):c.677-18C>T
NM_017950.4(CCDC40):c.677-4C>A
NM_017950.4(CCDC40):c.690G>T (p.Gly230=) rs750834095
NM_017950.4(CCDC40):c.69G>A (p.Lys23=)
NM_017950.4(CCDC40):c.705C>T (p.His235=)
NM_017950.4(CCDC40):c.756C>T (p.Ser252=)
NM_017950.4(CCDC40):c.792C>T (p.Ser264=)
NM_017950.4(CCDC40):c.832C>T (p.Leu278=)
NM_017950.4(CCDC40):c.855+12T>A
NM_017950.4(CCDC40):c.855+20_855+24del rs2037498801
NM_017950.4(CCDC40):c.856-9T>C rs1193011376
NM_017950.4(CCDC40):c.867A>G (p.Val289=) rs1386295352
NM_017950.4(CCDC40):c.93+14T>C
NM_017950.4(CCDC40):c.93+15G>A
NM_017950.4(CCDC40):c.93+20G>A
NM_017950.4(CCDC40):c.93+7T>C
NM_017950.4(CCDC40):c.939+10C>T
NM_017950.4(CCDC40):c.939+13C>G
NM_017950.4(CCDC40):c.94-12A>G

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