ClinVar Miner

List of variants in gene TTC8 reported as uncertain significance for Bardet-Biedl syndrome

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 223
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HGVS dbSNP gnomAD frequency
NM_144596.4(TTC8):c.*57C>T rs74079414 0.01106
NM_144596.4(TTC8):c.625-5C>T rs137853922 0.00807
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly) rs114557412 0.00354
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478 0.00272
NM_144596.4(TTC8):c.1077C>T (p.Asn359=) rs150896551 0.00141
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) rs140698625 0.00064
NM_144596.4(TTC8):c.669G>A (p.Lys223=) rs141304350 0.00026
NM_144596.4(TTC8):c.*92C>T rs148799039 0.00024
NM_144596.4(TTC8):c.1262G>C (p.Arg421Thr) rs374742528 0.00021
NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala) rs376411291 0.00021
NM_144596.4(TTC8):c.1463C>T (p.Ala488Val) rs199649536 0.00016
NM_144596.4(TTC8):c.1063A>T (p.Met355Leu) rs140163629 0.00012
NM_144596.4(TTC8):c.1051C>T (p.Arg351Trp) rs755412340 0.00010
NM_144596.4(TTC8):c.433G>A (p.Ala145Thr) rs540856754 0.00010
NM_144596.4(TTC8):c.484G>C (p.Gly162Arg) rs753150258 0.00010
NM_144596.4(TTC8):c.1294G>A (p.Glu432Lys) rs114401181 0.00009
NM_144596.4(TTC8):c.267C>A (p.Arg89=) rs200113889 0.00008
NM_144596.4(TTC8):c.905A>G (p.Tyr302Cys) rs370111364 0.00008
NM_144596.4(TTC8):c.308G>T (p.Gly103Val) rs140710339 0.00007
NM_144596.4(TTC8):c.*247T>C rs886050879 0.00006
NM_144596.4(TTC8):c.4A>G (p.Ser2Gly) rs759112760 0.00006
NM_144596.4(TTC8):c.874G>A (p.Val292Ile) rs375086490 0.00006
NM_144596.4(TTC8):c.913A>G (p.Met305Val) rs143237548 0.00006
NM_144596.4(TTC8):c.1078G>A (p.Gly360Ser) rs771231605 0.00005
NM_144596.4(TTC8):c.1052G>A (p.Arg351Gln) rs779617849 0.00004
NM_144596.4(TTC8):c.114+6G>C rs370326452 0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_144596.4(TTC8):c.800T>A (p.Val267Asp) rs770333148 0.00004
NM_144596.4(TTC8):c.1040G>A (p.Arg347Gln) rs1246614842 0.00003
NM_144596.4(TTC8):c.1542G>A (p.Met514Ile) rs571571526 0.00003
NM_144596.4(TTC8):c.401C>T (p.Thr134Ile) rs982852104 0.00003
NM_144596.4(TTC8):c.980A>G (p.Glu327Gly) rs749721461 0.00003
NM_144596.4(TTC8):c.1042T>C (p.Phe348Leu) rs200086953 0.00002
NM_144596.4(TTC8):c.1347+6T>G rs368072201 0.00002
NM_144596.4(TTC8):c.1382C>T (p.Ala461Val) rs139195149 0.00002
NM_144596.4(TTC8):c.23T>A (p.Leu8Gln) rs1277993132 0.00002
NM_144596.4(TTC8):c.322G>A (p.Ala108Thr) rs1000702394 0.00002
NM_144596.4(TTC8):c.325G>A (p.Val109Ile) rs150067562 0.00002
NM_144596.4(TTC8):c.43T>C (p.Phe15Leu) rs1379428942 0.00002
NM_144596.4(TTC8):c.445C>T (p.Arg149Cys) rs781214218 0.00002
NM_144596.4(TTC8):c.446G>A (p.Arg149His) rs768271175 0.00002
NM_144596.4(TTC8):c.466G>A (p.Gly156Arg) rs750521601 0.00002
NM_144596.4(TTC8):c.5G>A (p.Ser2Asn) rs199571677 0.00002
NM_144596.4(TTC8):c.607G>A (p.Glu203Lys) rs1018209116 0.00002
NM_144596.4(TTC8):c.799-11C>T rs768485587 0.00002
NM_144596.4(TTC8):c.855A>C (p.Leu285Phe) rs774379732 0.00002
NM_144596.4(TTC8):c.988G>A (p.Ala330Thr) rs568563702 0.00002
NM_144596.4(TTC8):c.103C>T (p.Pro35Ser) rs762461640 0.00001
NM_144596.4(TTC8):c.1133T>C (p.Met378Thr) rs1003053014 0.00001
NM_144596.4(TTC8):c.1171G>C (p.Glu391Gln) rs1253282084 0.00001
NM_144596.4(TTC8):c.1215T>G (p.His405Gln) rs753212470 0.00001
NM_144596.4(TTC8):c.1224+19A>G rs1329774650 0.00001
NM_144596.4(TTC8):c.1277A>T (p.Asn426Ile) rs575952395 0.00001
NM_144596.4(TTC8):c.1352G>A (p.Arg451Lys) rs772498950 0.00001
NM_144596.4(TTC8):c.1363C>A (p.Gln455Lys) rs773278542 0.00001
NM_144596.4(TTC8):c.1402C>T (p.His468Tyr) rs148602884 0.00001
NM_144596.4(TTC8):c.1420A>G (p.Ile474Val) rs1244721977 0.00001
NM_144596.4(TTC8):c.145-10T>C rs754997963 0.00001
NM_144596.4(TTC8):c.1544T>C (p.Leu515Pro) rs2094961758 0.00001
NM_144596.4(TTC8):c.175A>G (p.Thr59Ala) rs1335402056 0.00001
NM_144596.4(TTC8):c.265C>T (p.Arg89Cys) rs747646200 0.00001
NM_144596.4(TTC8):c.275C>T (p.Thr92Met) rs886050877 0.00001
NM_144596.4(TTC8):c.298A>G (p.Asn100Asp) rs758294605 0.00001
NM_144596.4(TTC8):c.355A>G (p.Ile119Val) rs1188208020 0.00001
NM_144596.4(TTC8):c.361G>A (p.Gly121Ser) rs771327965 0.00001
NM_144596.4(TTC8):c.386G>A (p.Ser129Asn) rs761817038 0.00001
NM_144596.4(TTC8):c.415A>G (p.Ile139Val) rs766062841 0.00001
NM_144596.4(TTC8):c.436T>C (p.Tyr146His) rs747125124 0.00001
NM_144596.4(TTC8):c.452T>A (p.Ile151Asn) rs774233751 0.00001
NM_144596.4(TTC8):c.596T>A (p.Ile199Asn) rs753995884 0.00001
NM_144596.4(TTC8):c.631G>T (p.Asp211Tyr) rs377540438 0.00001
NM_144596.4(TTC8):c.640G>A (p.Ala214Thr) rs1295139564 0.00001
NM_144596.4(TTC8):c.744T>G (p.Phe248Leu) rs1411331497 0.00001
NM_144596.4(TTC8):c.909G>C (p.Glu303Asp) rs1413362477 0.00001
NM_144596.4(TTC8):c.950A>C (p.Glu317Ala) rs1220094479 0.00001
NC_000014.8:g.(?_89291052)_(89305916_?)dup
NC_000014.8:g.(?_89291052)_(89343754_?)dup
NC_000014.8:g.(?_89319295)_(89323641_?)del
NC_000014.8:g.(?_89327546)_(89327696_?)del
NM_144596.4(TTC8):c.*17A>G rs1164204068
NM_144596.4(TTC8):c.*377C>T rs1395639006
NM_144596.4(TTC8):c.*418G>A rs2094963356
NM_144596.4(TTC8):c.*45A>C rs1273103151
NM_144596.4(TTC8):c.-38C>A rs886050876
NM_144596.4(TTC8):c.-44C>T rs571786285
NM_144596.4(TTC8):c.1022A>G (p.Gln341Arg) rs2094927980
NM_144596.4(TTC8):c.1026A>G (p.Pro342=)
NM_144596.4(TTC8):c.1033G>A (p.Ala345Thr)
NM_144596.4(TTC8):c.1039C>T (p.Arg347Trp)
NM_144596.4(TTC8):c.104C>A (p.Pro35His) rs2094691079
NM_144596.4(TTC8):c.1050G>T (p.Arg350Ser) rs2094933981
NM_144596.4(TTC8):c.1069A>G (p.Ile357Val)
NM_144596.4(TTC8):c.1073A>T (p.Tyr358Phe) rs951491897
NM_144596.4(TTC8):c.1084C>G (p.Leu362Val) rs2094934211
NM_144596.4(TTC8):c.1102C>T (p.Leu368=)
NM_144596.4(TTC8):c.1118C>A (p.Ala373Asp) rs768465465
NM_144596.4(TTC8):c.1124A>C (p.Gln375Pro) rs774216735
NM_144596.4(TTC8):c.113A>G (p.Gln38Arg) rs1224545398
NM_144596.4(TTC8):c.114+5C>T
NM_144596.4(TTC8):c.1147T>C (p.Phe383Leu) rs2094934479
NM_144596.4(TTC8):c.114G>T (p.Gln38His) rs2094691170
NM_144596.4(TTC8):c.1154G>A (p.Arg385His)
NM_144596.4(TTC8):c.1185G>C (p.Glu395Asp) rs1375783683
NM_144596.4(TTC8):c.1214A>G (p.His405Arg)
NM_144596.4(TTC8):c.1234G>T (p.Asp412Tyr)
NM_144596.4(TTC8):c.1237A>C (p.Thr413Pro)
NM_144596.4(TTC8):c.1276AAC[3] (p.Asn429del) rs750442302
NM_144596.4(TTC8):c.1276AAC[5] (p.Asn429dup) rs750442302
NM_144596.4(TTC8):c.1277A>G (p.Asn426Ser)
NM_144596.4(TTC8):c.1285A>C (p.Asn429His)
NM_144596.4(TTC8):c.1324A>G (p.Met442Val) rs1259630992
NM_144596.4(TTC8):c.1340T>C (p.Val447Ala)
NM_144596.4(TTC8):c.1360T>G (p.Leu454Val)
NM_144596.4(TTC8):c.1363C>G (p.Gln455Glu) rs773278542
NM_144596.4(TTC8):c.1385C>G (p.Pro462Arg) rs2141044395
NM_144596.4(TTC8):c.1388A>T (p.His463Leu) rs2141044398
NM_144596.4(TTC8):c.1394A>G (p.Tyr465Cys)
NM_144596.4(TTC8):c.1418C>T (p.Thr473Ile) rs762313028
NM_144596.4(TTC8):c.1423T>A (p.Ser475Thr) rs2141044512
NM_144596.4(TTC8):c.1424C>T (p.Ser475Phe)
NM_144596.4(TTC8):c.1431+1G>T rs779743153
NM_144596.4(TTC8):c.1431+3A>G rs2094951653
NM_144596.4(TTC8):c.1432A>T (p.Ile478Phe) rs753441040
NM_144596.4(TTC8):c.1441C>A (p.Leu481Met)
NM_144596.4(TTC8):c.1465C>T (p.Gln489Ter)
NM_144596.4(TTC8):c.1487C>T (p.Pro496Leu)
NM_144596.4(TTC8):c.1491C>T (p.Asp497=) rs886050878
NM_144596.4(TTC8):c.1495G>A (p.Val499Met) rs538188579
NM_144596.4(TTC8):c.1542G>T (p.Met514Ile) rs571571526
NM_144596.4(TTC8):c.163G>A (p.Ala55Thr)
NM_144596.4(TTC8):c.172C>A (p.Leu58Ile)
NM_144596.4(TTC8):c.183G>A (p.Met61Ile)
NM_144596.4(TTC8):c.192A>G (p.Ile64Met)
NM_144596.4(TTC8):c.193G>A (p.Asp65Asn) rs2094769718
NM_144596.4(TTC8):c.1A>G (p.Met1Val) rs747906724
NM_144596.4(TTC8):c.1A>T (p.Met1Leu)
NM_144596.4(TTC8):c.221T>C (p.Ile74Thr) rs2094769961
NM_144596.4(TTC8):c.224C>A (p.Ala75Glu)
NM_144596.4(TTC8):c.250A>G (p.Ile84Val)
NM_144596.4(TTC8):c.265+5G>A rs2094770219
NM_144596.4(TTC8):c.293G>A (p.Gly98Glu) rs1566836961
NM_144596.4(TTC8):c.2T>C (p.Met1Thr) rs776086794
NM_144596.4(TTC8):c.305C>T (p.Thr102Ile) rs1341297017
NM_144596.4(TTC8):c.311G>A (p.Gly104Glu)
NM_144596.4(TTC8):c.313C>T (p.Pro105Ser) rs2094777358
NM_144596.4(TTC8):c.329+4T>C
NM_144596.4(TTC8):c.332C>T (p.Pro111Leu) rs2094778322
NM_144596.4(TTC8):c.336C>G (p.Ile112Met) rs2140976682
NM_144596.4(TTC8):c.341A>G (p.Gln114Arg)
NM_144596.4(TTC8):c.34T>G (p.Trp12Gly) rs2140944058
NM_144596.4(TTC8):c.370A>G (p.Arg124Gly)
NM_144596.4(TTC8):c.380C>A (p.Thr127Lys) rs369803125
NM_144596.4(TTC8):c.380C>T (p.Thr127Met) rs369803125
NM_144596.4(TTC8):c.383A>C (p.Gln128Pro) rs2140976838
NM_144596.4(TTC8):c.384G>C (p.Gln128His)
NM_144596.4(TTC8):c.398G>A (p.Gly133Asp)
NM_144596.4(TTC8):c.410A>G (p.Gln137Arg) rs1337021580
NM_144596.4(TTC8):c.415A>C (p.Ile139Leu) rs766062841
NM_144596.4(TTC8):c.417C>G (p.Ile139Met) rs2094779029
NM_144596.4(TTC8):c.418A>G (p.Arg140Gly) rs2140976960
NM_144596.4(TTC8):c.422C>A (p.Thr141Lys)
NM_144596.4(TTC8):c.425C>T (p.Pro142Leu)
NM_144596.4(TTC8):c.429A>C (p.Arg143Ser) rs1472731626
NM_144596.4(TTC8):c.430A>C (p.Thr144Pro)
NM_144596.4(TTC8):c.446G>T (p.Arg149Leu) rs768271175
NM_144596.4(TTC8):c.470G>C (p.Arg157Thr) rs754686957
NM_144596.4(TTC8):c.488C>T (p.Thr163Met) rs758942370
NM_144596.4(TTC8):c.490G>A (p.Ala164Thr) rs184952059
NM_144596.4(TTC8):c.506G>A (p.Ser169Asn)
NM_144596.4(TTC8):c.509C>T (p.Pro170Leu) rs1006330985
NM_144596.4(TTC8):c.512A>G (p.Asp171Gly)
NM_144596.4(TTC8):c.514G>A (p.Gly172Arg)
NM_144596.4(TTC8):c.517C>T (p.Pro173Ser) rs2140977797
NM_144596.4(TTC8):c.531A>T (p.Leu177Phe)
NM_144596.4(TTC8):c.573G>C (p.Leu191Phe)
NM_144596.4(TTC8):c.589G>C (p.Glu197Gln)
NM_144596.4(TTC8):c.5G>T (p.Ser2Ile)
NM_144596.4(TTC8):c.602A>G (p.His201Arg) rs1328638709
NM_144596.4(TTC8):c.616G>A (p.Val206Ile)
NM_144596.4(TTC8):c.616_618del (p.Val206del) rs1411331191
NM_144596.4(TTC8):c.62A>G (p.Gln21Arg) rs2094690662
NM_144596.4(TTC8):c.62A>T (p.Gln21Leu) rs2094690662
NM_144596.4(TTC8):c.630G>T (p.Leu210Phe) rs2094839899
NM_144596.4(TTC8):c.659C>T (p.Ser220Phe) rs2094840063
NM_144596.4(TTC8):c.662A>G (p.Gln221Arg)
NM_144596.4(TTC8):c.665A>G (p.Tyr222Cys) rs1257221355
NM_144596.4(TTC8):c.676T>C (p.Trp226Arg) rs2140999509
NM_144596.4(TTC8):c.700T>A (p.Cys234Ser)
NM_144596.4(TTC8):c.704A>G (p.Tyr235Cys) rs1445461942
NM_144596.4(TTC8):c.710+4A>C rs1352481954
NM_144596.4(TTC8):c.714G>A (p.Leu238=) rs1435283670
NM_144596.4(TTC8):c.715G>C (p.Gly239Arg) rs374351698
NM_144596.4(TTC8):c.720G>A (p.Met240Ile) rs1051402043
NM_144596.4(TTC8):c.725G>A (p.Arg242His)
NM_144596.4(TTC8):c.727G>A (p.Glu243Lys) rs1419727328
NM_144596.4(TTC8):c.73G>T (p.Asp25Tyr) rs772967779
NM_144596.4(TTC8):c.747del (p.Lys249fs)
NM_144596.4(TTC8):c.749C>T (p.Ser250Leu) rs943156593
NM_144596.4(TTC8):c.758A>G (p.Lys253Arg)
NM_144596.4(TTC8):c.776A>T (p.Asp259Val) rs2141007421
NM_144596.4(TTC8):c.785T>C (p.Leu262Pro) rs1459496188
NM_144596.4(TTC8):c.785T>G (p.Leu262Arg)
NM_144596.4(TTC8):c.798+256T>C
NM_144596.4(TTC8):c.79T>C (p.Cys27Arg) rs2094690812
NM_144596.4(TTC8):c.814G>A (p.Asp272Asn)
NM_144596.4(TTC8):c.816T>A (p.Asp272Glu)
NM_144596.4(TTC8):c.83C>A (p.Thr28Lys) rs1169043172
NM_144596.4(TTC8):c.857A>G (p.Asp286Gly)
NM_144596.4(TTC8):c.865C>T (p.Pro289Ser) rs2141016153
NM_144596.4(TTC8):c.872A>G (p.Glu291Gly)
NM_144596.4(TTC8):c.878C>A (p.Thr293Asn) rs1028407834
NM_144596.4(TTC8):c.890G>A (p.Gly297Glu)
NM_144596.4(TTC8):c.8C>G (p.Ser3Trp) rs752229926
NM_144596.4(TTC8):c.8C>T (p.Ser3Leu) rs752229926
NM_144596.4(TTC8):c.903C>G (p.Ile301Met)
NM_144596.4(TTC8):c.910-6G>A
NM_144596.4(TTC8):c.923T>C (p.Met308Thr) rs2094927396
NM_144596.4(TTC8):c.935C>A (p.Ala312Glu) rs1010519307
NM_144596.4(TTC8):c.943T>G (p.Tyr315Asp) rs2094927520
NM_144596.4(TTC8):c.949G>A (p.Glu317Lys)
NM_144596.4(TTC8):c.964G>A (p.Asp322Asn) rs2094927630
NM_144596.4(TTC8):c.976G>T (p.Val326Leu)
NM_144596.4(TTC8):c.983C>T (p.Ala328Val) rs755533153

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