ClinVar Miner

List of variants in gene TRIP11 studied for achondrogenesis

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 226
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HGVS dbSNP
NM_004239.4(TRIP11):c.*100A>G rs144403505
NM_004239.4(TRIP11):c.*1060C>T rs10142576
NM_004239.4(TRIP11):c.*107C>T
NM_004239.4(TRIP11):c.*1175C>G
NM_004239.4(TRIP11):c.*1185G>A
NM_004239.4(TRIP11):c.*1194A>G rs886050894
NM_004239.4(TRIP11):c.*1212C>T
NM_004239.4(TRIP11):c.*1294A>G rs143185383
NM_004239.4(TRIP11):c.*1339del rs35251290
NM_004239.4(TRIP11):c.*1339dup rs35251290
NM_004239.4(TRIP11):c.*1374A>C rs74801826
NM_004239.4(TRIP11):c.*1521G>A
NM_004239.4(TRIP11):c.*1554T>A rs11848545
NM_004239.4(TRIP11):c.*1591G>T
NM_004239.4(TRIP11):c.*162G>T
NM_004239.4(TRIP11):c.*163C>T rs142907939
NM_004239.4(TRIP11):c.*1744G>A rs11848512
NM_004239.4(TRIP11):c.*246A>G rs111335604
NM_004239.4(TRIP11):c.*273A>C
NM_004239.4(TRIP11):c.*288C>A
NM_004239.4(TRIP11):c.*290A>G rs189206458
NM_004239.4(TRIP11):c.*297A>G
NM_004239.4(TRIP11):c.*312A>G rs565776732
NM_004239.4(TRIP11):c.*345T>C rs17127786
NM_004239.4(TRIP11):c.*362C>G rs886050902
NM_004239.4(TRIP11):c.*383del rs547231708
NM_004239.4(TRIP11):c.*383dup rs547231708
NM_004239.4(TRIP11):c.*384A>T rs886050900
NM_004239.4(TRIP11):c.*387C>A
NM_004239.4(TRIP11):c.*387del rs148331500
NM_004239.4(TRIP11):c.*409A>G rs886050899
NM_004239.4(TRIP11):c.*430A>G rs12587248
NM_004239.4(TRIP11):c.*491A>C rs886050898
NM_004239.4(TRIP11):c.*544C>T rs528182792
NM_004239.4(TRIP11):c.*610A>C rs111671120
NM_004239.4(TRIP11):c.*628C>T rs886050897
NM_004239.4(TRIP11):c.*664C>T
NM_004239.4(TRIP11):c.*749G>A
NM_004239.4(TRIP11):c.*840A>G rs368630607
NM_004239.4(TRIP11):c.*891A>G rs886050896
NM_004239.4(TRIP11):c.*904A>G rs886050895
NM_004239.4(TRIP11):c.*930C>T rs74071653
NM_004239.4(TRIP11):c.*938A>G
NM_004239.4(TRIP11):c.*952A>T rs1133441
NM_004239.4(TRIP11):c.*9C>G rs373269085
NM_004239.4(TRIP11):c.-128C>T rs886050910
NM_004239.4(TRIP11):c.-24G>A rs199937850
NM_004239.4(TRIP11):c.-255G>A rs886050911
NM_004239.4(TRIP11):c.-265C>A rs532470754
NM_004239.4(TRIP11):c.-267A>G rs886050912
NM_004239.4(TRIP11):c.-272G>C rs886050913
NM_004239.4(TRIP11):c.-331C>G rs1955683
NM_004239.4(TRIP11):c.-333G>A rs559266963
NM_004239.4(TRIP11):c.-335G>A rs886050914
NM_004239.4(TRIP11):c.-337C>T rs886050915
NM_004239.4(TRIP11):c.-349T>G
NM_004239.4(TRIP11):c.-365C>G rs74071824
NM_004239.4(TRIP11):c.-58C>T rs886050909
NM_004239.4(TRIP11):c.-61C>T rs78222479
NM_004239.4(TRIP11):c.-98C>T
NM_004239.4(TRIP11):c.107A>T (p.Asp36Val) rs186074112
NM_004239.4(TRIP11):c.1146A>G (p.Ala382=) rs377371591
NM_004239.4(TRIP11):c.1159G>A (p.Val387Met) rs376669587
NM_004239.4(TRIP11):c.115A>T (p.Met39Leu) rs17127898
NM_004239.4(TRIP11):c.1186+14G>A rs371492052
NM_004239.4(TRIP11):c.1265T>C (p.Met422Thr) rs200567543
NM_004239.4(TRIP11):c.1271T>G (p.Ile424Ser) rs755311537
NM_004239.4(TRIP11):c.1280T>A (p.Leu427Ter) rs34761938
NM_004239.4(TRIP11):c.1280T>C (p.Leu427Ser) rs34761938
NM_004239.4(TRIP11):c.1289A>G (p.Glu430Gly) rs142579179
NM_004239.4(TRIP11):c.1312A>G (p.Lys438Glu)
NM_004239.4(TRIP11):c.1432G>A (p.Ala478Thr)
NM_004239.4(TRIP11):c.1493A>T (p.Glu498Val)
NM_004239.4(TRIP11):c.1517A>C (p.Glu506Ala) rs2273186
NM_004239.4(TRIP11):c.1527+6A>G rs17127844
NM_004239.4(TRIP11):c.1527+7C>G rs372704269
NM_004239.4(TRIP11):c.1547A>G (p.Asp516Gly) rs1018806781
NM_004239.4(TRIP11):c.1663A>G (p.Lys555Glu)
NM_004239.4(TRIP11):c.1689G>A (p.Lys563=) rs749219134
NM_004239.4(TRIP11):c.1715A>G (p.Asn572Ser)
NM_004239.4(TRIP11):c.1774C>T (p.Leu592=) rs199768095
NM_004239.4(TRIP11):c.183T>C (p.His61=) rs138904373
NM_004239.4(TRIP11):c.1897C>A (p.Gln633Lys)
NM_004239.4(TRIP11):c.1904C>G (p.Ser635Cys) rs59635749
NM_004239.4(TRIP11):c.1934_1937AAGA[1] (p.Arg647fs) rs773312108
NM_004239.4(TRIP11):c.1935A>G (p.Lys645=)
NM_004239.4(TRIP11):c.1937A>G (p.Glu646Gly)
NM_004239.4(TRIP11):c.1952T>C (p.Val651Ala) rs35991093
NM_004239.4(TRIP11):c.202-11T>G
NM_004239.4(TRIP11):c.202-2A>G rs863223281
NM_004239.4(TRIP11):c.202-7T>A rs56034853
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) rs139539448
NM_004239.4(TRIP11):c.2128_2129del (p.Ile710fs) rs1566860640
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) rs143524436
NM_004239.4(TRIP11):c.2138C>A (p.Thr713Asn) rs188524590
NM_004239.4(TRIP11):c.217A>G (p.Lys73Glu) rs114300046
NM_004239.4(TRIP11):c.2217T>C (p.Tyr739=) rs35009380
NM_004239.4(TRIP11):c.2237T>C (p.Leu746Pro) rs745959376
NM_004239.4(TRIP11):c.223T>C (p.Cys75Arg) rs201567600
NM_004239.4(TRIP11):c.2300_2303TCAA[1] (p.Asn768fs) rs1294029121
NM_004239.4(TRIP11):c.2357A>C (p.Asp786Ala) rs201394520
NM_004239.4(TRIP11):c.2377A>G (p.Lys793Glu) rs1178042413
NM_004239.4(TRIP11):c.2382C>T (p.Asp794=) rs372227102
NM_004239.4(TRIP11):c.2383G>C (p.Val795Leu) rs34699762
NM_004239.4(TRIP11):c.2494G>A (p.Asp832Asn) rs374243914
NM_004239.4(TRIP11):c.2498_2501del (p.Lys833fs) rs1085307101
NM_004239.4(TRIP11):c.2557C>T (p.Arg853Ter) rs1053206465
NM_004239.4(TRIP11):c.2603A>G (p.Glu868Gly) rs1306336953
NM_004239.4(TRIP11):c.2651A>G (p.Asp884Gly) rs34967261
NM_004239.4(TRIP11):c.2667T>C (p.Asp889=) rs140106241
NM_004239.4(TRIP11):c.2710A>G (p.Ile904Val) rs886050907
NM_004239.4(TRIP11):c.2741A>C (p.His914Pro)
NM_004239.4(TRIP11):c.2756T>C (p.Ile919Thr) rs201417947
NM_004239.4(TRIP11):c.2829T>C (p.Phe943=) rs758437737
NM_004239.4(TRIP11):c.2864C>A (p.Thr955Asn) rs200045450
NM_004239.4(TRIP11):c.2931C>T (p.Thr977=) rs7152887
NM_004239.4(TRIP11):c.3100C>T (p.Leu1034Phe) rs200739251
NM_004239.4(TRIP11):c.3118A>G (p.Ile1040Val) rs34805848
NM_004239.4(TRIP11):c.3120A>G (p.Ile1040Met)
NM_004239.4(TRIP11):c.3147G>A (p.Leu1049=) rs17127842
NM_004239.4(TRIP11):c.3306T>C (p.Phe1102=) rs34151071
NM_004239.4(TRIP11):c.3352_3353del (p.Glu1118fs) rs1566859264
NM_004239.4(TRIP11):c.3370G>A (p.Asp1124Asn) rs1466692158
NM_004239.4(TRIP11):c.3380C>T (p.Ala1127Val) rs191280213
NM_004239.4(TRIP11):c.3413A>G (p.Asp1138Gly)
NM_004239.4(TRIP11):c.3477del (p.Gln1160fs)
NM_004239.4(TRIP11):c.3478C>T (p.Gln1160Ter) rs1595387492
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His) rs41301481
NM_004239.4(TRIP11):c.3666A>G (p.Glu1222=) rs769979770
NM_004239.4(TRIP11):c.3671G>A (p.Trp1224Ter) rs776935608
NM_004239.4(TRIP11):c.3714G>A (p.Glu1238=) rs34919898
NM_004239.4(TRIP11):c.3743A>G (p.Gln1248Arg)
NM_004239.4(TRIP11):c.3784A>G (p.Lys1262Glu) rs886050906
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) rs141553918
NM_004239.4(TRIP11):c.3858G>A (p.Gln1286=) rs35798420
NM_004239.4(TRIP11):c.3871G>A (p.Val1291Ile) rs142078341
NM_004239.4(TRIP11):c.3880A>G (p.Ser1294Gly)
NM_004239.4(TRIP11):c.3962T>A (p.Leu1321Ter) rs745372938
NM_004239.4(TRIP11):c.4050A>C (p.Glu1350Asp) rs548160101
NM_004239.4(TRIP11):c.405T>C (p.Ala135=) rs77981249
NM_004239.4(TRIP11):c.4062A>C (p.Lys1354Asn)
NM_004239.4(TRIP11):c.4063T>A (p.Ser1355Thr) rs138661581
NM_004239.4(TRIP11):c.4069C>A (p.Gln1357Lys) rs144829001
NM_004239.4(TRIP11):c.4127C>A (p.Ser1376Ter) rs1045076800
NM_004239.4(TRIP11):c.4128G>T (p.Ser1376=) rs373454645
NM_004239.4(TRIP11):c.4130T>C (p.Ile1377Thr) rs1595386646
NM_004239.4(TRIP11):c.4139C>T (p.Thr1380Ile) rs117748213
NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys) rs201607866
NM_004239.4(TRIP11):c.4164C>T (p.His1388=) rs140130380
NM_004239.4(TRIP11):c.4173C>T (p.Thr1391=) rs140070005
NM_004239.4(TRIP11):c.4205A>G (p.Gln1402Arg)
NM_004239.4(TRIP11):c.4206A>G (p.Gln1402=)
NM_004239.4(TRIP11):c.425C>T (p.Ala142Val) rs766014867
NM_004239.4(TRIP11):c.4330G>C (p.Val1444Leu)
NM_004239.4(TRIP11):c.4388G>A (p.Gly1463Glu)
NM_004239.4(TRIP11):c.438C>T (p.Phe146=) rs371786500
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=) rs144780536
NM_004239.4(TRIP11):c.4443G>A (p.Ala1481=) rs372272441
NM_004239.4(TRIP11):c.4507A>G (p.Met1503Val) rs34839498
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=) rs72705400
NM_004239.4(TRIP11):c.4649T>C (p.Met1550Thr)
NM_004239.4(TRIP11):c.4699-4C>G rs886050905
NM_004239.4(TRIP11):c.4726C>T (p.Arg1576Cys)
NM_004239.4(TRIP11):c.4727G>A (p.Arg1576His) rs35007347
NM_004239.4(TRIP11):c.4760A>G (p.His1587Arg)
NM_004239.4(TRIP11):c.4776A>G (p.Glu1592=) rs370124193
NM_004239.4(TRIP11):c.477C>T (p.Asp159=) rs147932068
NM_004239.4(TRIP11):c.4780T>G (p.Ser1594Ala) rs886050904
NM_004239.4(TRIP11):c.4800G>C (p.Leu1600Phe)
NM_004239.4(TRIP11):c.4812T>C (p.Asp1604=) rs17127837
NM_004239.4(TRIP11):c.4830_4833AAAG[1] (p.Lys1612fs) rs1274744069
NM_004239.4(TRIP11):c.4851G>C (p.Glu1617Asp)
NM_004239.4(TRIP11):c.492T>C (p.Phe164=) rs367632896
NM_004239.4(TRIP11):c.4967C>T (p.Ala1656Val)
NM_004239.4(TRIP11):c.5010T>C (p.Ala1670=) rs149334552
NM_004239.4(TRIP11):c.5056+11C>T rs199549473
NM_004239.4(TRIP11):c.5057-9T>G rs372161255
NM_004239.4(TRIP11):c.506C>T (p.Ser169Leu)
NM_004239.4(TRIP11):c.5086G>A (p.Glu1696Lys) rs80200454
NM_004239.4(TRIP11):c.5125G>A (p.Ala1709Thr) rs141965887
NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln) rs137974620
NM_004239.4(TRIP11):c.5149A>T (p.Ile1717Leu) rs146963789
NM_004239.4(TRIP11):c.5192A>G (p.Asp1731Gly) rs536393273
NM_004239.4(TRIP11):c.5197G>A (p.Ala1733Thr)
NM_004239.4(TRIP11):c.5202A>T (p.Ser1734=)
NM_004239.4(TRIP11):c.5239A>G (p.Ile1747Val) rs137914270
NM_004239.4(TRIP11):c.5246A>C (p.Glu1749Ala) rs2273183
NM_004239.4(TRIP11):c.5255G>A (p.Arg1752Lys) rs11851376
NM_004239.4(TRIP11):c.5298G>T (p.Lys1766Asn) rs145868557
NM_004239.4(TRIP11):c.5449A>T (p.Met1817Leu)
NM_004239.4(TRIP11):c.5457+13T>A rs886050903
NM_004239.4(TRIP11):c.5469C>T (p.Asp1823=)
NM_004239.4(TRIP11):c.5470G>A (p.Asp1824Asn) rs550137986
NM_004239.4(TRIP11):c.5479G>A (p.Gly1827Ser) rs1051340
NM_004239.4(TRIP11):c.5479G>T (p.Gly1827Cys) rs1051340
NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile) rs141259390
NM_004239.4(TRIP11):c.5571T>C (p.Asn1857=) rs369316409
NM_004239.4(TRIP11):c.5607A>G (p.Glu1869=)
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr) rs148261539
NM_004239.4(TRIP11):c.5630C>T (p.Pro1877Leu)
NM_004239.4(TRIP11):c.5651A>G (p.His1884Arg) rs74071672
NM_004239.4(TRIP11):c.5657T>C (p.Met1886Thr)
NM_004239.4(TRIP11):c.5719+2T>C rs199736345
NM_004239.4(TRIP11):c.5720-5T>G
NM_004239.4(TRIP11):c.5777G>A (p.Arg1926His) rs137938779
NM_004239.4(TRIP11):c.5781G>A (p.Ser1927=) rs3742719
NM_004239.4(TRIP11):c.5811A>C (p.Gly1937=) rs748645116
NM_004239.4(TRIP11):c.5829C>T (p.Pro1943=) rs748903681
NM_004239.4(TRIP11):c.586C>T (p.Gln196Ter) rs149079426
NM_004239.4(TRIP11):c.5889G>A (p.Ala1963=) rs142075650
NM_004239.4(TRIP11):c.615_616CT[1] (p.Asn205_Ser206insTer) rs1566867763
NM_004239.4(TRIP11):c.61G>A (p.Gly21Ser) rs202127909
NM_004239.4(TRIP11):c.657+9A>C
NM_004239.4(TRIP11):c.686T>C (p.Ile229Thr) rs886050908
NM_004239.4(TRIP11):c.754C>A (p.Arg252=) rs186197454
NM_004239.4(TRIP11):c.783T>C (p.Tyr261=) rs145020414
NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter) rs267607138
NM_004239.4(TRIP11):c.81dup (p.Gly28fs)
NM_004239.4(TRIP11):c.823+4A>T rs778772980
NM_004239.4(TRIP11):c.824-15G>C
NM_004239.4(TRIP11):c.830C>G (p.Ser277Cys) rs373532678
NM_004239.4(TRIP11):c.950A>T (p.Asp317Val) rs140416653
NM_004239.4(TRIP11):c.986_987GA[1] (p.Asp330fs) rs750602133
NM_004239.4(TRIP11):c.998G>A (p.Arg333Lys)
NM_004239.4(TRIP11):c.9C>T (p.Ser3=)
NP_004230.2(TRIP11):p.Trp1224Ter

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