ClinVar Miner

List of variants reported as uncertain significance for achondrogenesis type IA by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 217
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HGVS dbSNP gnomAD frequency
NM_004239.4(TRIP11):c.5777G>A (p.Arg1926His) rs137938779 0.00049
NM_004239.4(TRIP11):c.5657T>C (p.Met1886Thr) rs143392370 0.00029
NM_004239.4(TRIP11):c.1289A>G (p.Glu430Gly) rs142579179 0.00024
NM_004239.4(TRIP11):c.5197G>A (p.Ala1733Thr) rs142518915 0.00024
NM_004239.4(TRIP11):c.5900A>G (p.Asn1967Ser) rs113605039 0.00024
NM_004239.4(TRIP11):c.950A>T (p.Asp317Val) rs140416653 0.00023
NM_004239.4(TRIP11):c.3380C>T (p.Ala1127Val) rs191280213 0.00019
NM_004239.4(TRIP11):c.3120A>G (p.Ile1040Met) rs150434192 0.00017
NM_004239.4(TRIP11):c.2756T>C (p.Ile919Thr) rs201417947 0.00015
NM_004239.4(TRIP11):c.5719+2T>C rs199736345 0.00014
NM_004239.4(TRIP11):c.2494G>A (p.Asp832Asn) rs374243914 0.00013
NM_004239.4(TRIP11):c.61G>A (p.Gly21Ser) rs202127909 0.00012
NM_004239.4(TRIP11):c.331A>G (p.Lys111Glu) rs776314213 0.00011
NM_004239.4(TRIP11):c.4405G>A (p.Val1469Met) rs147588757 0.00011
NM_004239.4(TRIP11):c.4967C>T (p.Ala1656Val) rs143594637 0.00011
NM_004239.4(TRIP11):c.223T>C (p.Cys75Arg) rs201567600 0.00009
NM_004239.4(TRIP11):c.3215A>G (p.His1072Arg) rs200721244 0.00009
NM_004239.4(TRIP11):c.3413A>G (p.Asp1138Gly) rs749388466 0.00009
NM_004239.4(TRIP11):c.3743A>G (p.Gln1248Arg) rs150694723 0.00009
NM_004239.4(TRIP11):c.5149A>T (p.Ile1717Leu) rs146963789 0.00008
NM_004239.4(TRIP11):c.3514G>A (p.Glu1172Lys) rs145498019 0.00007
NM_004239.4(TRIP11):c.4050A>C (p.Glu1350Asp) rs548160101 0.00007
NM_004239.4(TRIP11):c.2303A>G (p.Asn768Ser) rs140780067 0.00006
NM_004239.4(TRIP11):c.3161T>G (p.Val1054Gly) rs552345466 0.00006
NM_004239.4(TRIP11):c.5307G>A (p.Met1769Ile) rs199834800 0.00006
NM_004239.4(TRIP11):c.2043G>T (p.Lys681Asn) rs745781387 0.00005
NM_004239.4(TRIP11):c.307A>C (p.Lys103Gln) rs147048571 0.00005
NM_004239.4(TRIP11):c.484A>T (p.Met162Leu) rs553843359 0.00005
NM_004239.4(TRIP11):c.674G>A (p.Arg225Gln) rs746390355 0.00005
NM_004239.4(TRIP11):c.686T>C (p.Ile229Thr) rs886050908 0.00005
NM_004239.4(TRIP11):c.1715A>G (p.Asn572Ser) rs201139951 0.00004
NM_004239.4(TRIP11):c.2237T>C (p.Leu746Pro) rs745959376 0.00004
NM_004239.4(TRIP11):c.280A>G (p.Thr94Ala) rs571262882 0.00004
NM_004239.4(TRIP11):c.4019A>C (p.Glu1340Ala) rs766521899 0.00004
NM_004239.4(TRIP11):c.4388G>A (p.Gly1463Glu) rs769666779 0.00004
NM_004239.4(TRIP11):c.5078C>T (p.Ala1693Val) rs765791979 0.00004
NM_004239.4(TRIP11):c.5192A>G (p.Asp1731Gly) rs536393273 0.00004
NM_004239.4(TRIP11):c.3871G>A (p.Val1291Ile) rs142078341 0.00003
NM_004239.4(TRIP11):c.3932T>C (p.Ile1311Thr) rs376783690 0.00003
NM_004239.4(TRIP11):c.4673T>A (p.Met1558Lys) rs373869385 0.00003
NM_004239.4(TRIP11):c.5200T>C (p.Ser1734Pro) rs764978725 0.00003
NM_004239.4(TRIP11):c.1039A>G (p.Met347Val) rs758182094 0.00002
NM_004239.4(TRIP11):c.2377A>G (p.Lys793Glu) rs1178042413 0.00002
NM_004239.4(TRIP11):c.3511A>G (p.Ile1171Val) rs541713444 0.00002
NM_004239.4(TRIP11):c.4165G>A (p.Glu1389Lys) rs770551258 0.00002
NM_004239.4(TRIP11):c.4692G>C (p.Gln1564His) rs764446226 0.00002
NM_004239.4(TRIP11):c.4726C>T (p.Arg1576Cys) rs763206653 0.00002
NM_004239.4(TRIP11):c.5630C>T (p.Pro1877Leu) rs766363206 0.00002
NM_004239.4(TRIP11):c.1255A>C (p.Lys419Gln) rs768332653 0.00001
NM_004239.4(TRIP11):c.1265T>C (p.Met422Thr) rs200567543 0.00001
NM_004239.4(TRIP11):c.1271T>G (p.Ile424Ser) rs755311537 0.00001
NM_004239.4(TRIP11):c.1312A>G (p.Lys438Glu) rs1479064739 0.00001
NM_004239.4(TRIP11):c.1547A>G (p.Asp516Gly) rs1018806781 0.00001
NM_004239.4(TRIP11):c.2038G>A (p.Glu680Lys) rs1400419650 0.00001
NM_004239.4(TRIP11):c.2041A>G (p.Lys681Glu) rs774891720 0.00001
NM_004239.4(TRIP11):c.2075A>G (p.Gln692Arg) rs369502177 0.00001
NM_004239.4(TRIP11):c.2129T>C (p.Ile710Thr) rs751874296 0.00001
NM_004239.4(TRIP11):c.2276T>A (p.Leu759Gln) rs146746460 0.00001
NM_004239.4(TRIP11):c.2558G>A (p.Arg853Gln) rs749954388 0.00001
NM_004239.4(TRIP11):c.2603A>G (p.Glu868Gly) rs1306336953 0.00001
NM_004239.4(TRIP11):c.3039A>C (p.Leu1013Phe) rs1425069965 0.00001
NM_004239.4(TRIP11):c.3370G>A (p.Asp1124Asn) rs1466692158 0.00001
NM_004239.4(TRIP11):c.3401T>C (p.Ile1134Thr) rs562038091 0.00001
NM_004239.4(TRIP11):c.3431C>T (p.Ser1144Phe) rs751017848 0.00001
NM_004239.4(TRIP11):c.3595G>A (p.Val1199Ile) rs553249131 0.00001
NM_004239.4(TRIP11):c.3631C>T (p.Arg1211Cys) rs760350739 0.00001
NM_004239.4(TRIP11):c.3797A>G (p.Asp1266Gly) rs1407130480 0.00001
NM_004239.4(TRIP11):c.392T>A (p.Val131Glu) rs778009285 0.00001
NM_004239.4(TRIP11):c.4062A>C (p.Lys1354Asn) rs775138686 0.00001
NM_004239.4(TRIP11):c.4073A>G (p.Glu1358Gly) rs777628142 0.00001
NM_004239.4(TRIP11):c.4182A>T (p.Glu1394Asp) rs771927850 0.00001
NM_004239.4(TRIP11):c.4205A>G (p.Gln1402Arg) rs1407474606 0.00001
NM_004239.4(TRIP11):c.425C>T (p.Ala142Val) rs766014867 0.00001
NM_004239.4(TRIP11):c.4712G>A (p.Arg1571His) rs534500568 0.00001
NM_004239.4(TRIP11):c.4805C>T (p.Ala1602Val) rs1012136976 0.00001
NM_004239.4(TRIP11):c.5034G>A (p.Met1678Ile) rs202047412 0.00001
NM_004239.4(TRIP11):c.5160G>A (p.Gln1720=) rs779414041 0.00001
NM_004239.4(TRIP11):c.5434G>A (p.Val1812Ile) rs139141533 0.00001
NM_004239.4(TRIP11):c.5470G>A (p.Asp1824Asn) rs550137986 0.00001
NM_004239.4(TRIP11):c.5486C>T (p.Thr1829Ile) rs1256584749 0.00001
NM_004239.4(TRIP11):c.5720-5T>G rs189330326 0.00001
NM_004239.4(TRIP11):c.5729A>T (p.Glu1910Val) rs370052334 0.00001
NM_004239.4(TRIP11):c.5776C>T (p.Arg1926Cys) rs201962758 0.00001
NM_004239.4(TRIP11):c.716T>C (p.Leu239Pro) rs1436524252 0.00001
NM_004239.4(TRIP11):c.911C>T (p.Ser304Phe) rs779061616 0.00001
NC_000014.8:g.(?_90429459)_(94856914_?)dup
NC_000014.8:g.(?_92505871)_(92506029_?)dup
NM_004239.4(TRIP11):c.1066G>A (p.Glu356Lys) rs2140129618
NM_004239.4(TRIP11):c.1153G>A (p.Glu385Lys) rs2057008669
NM_004239.4(TRIP11):c.1159G>A (p.Val387Met) rs376669587
NM_004239.4(TRIP11):c.1186+5A>G
NM_004239.4(TRIP11):c.1192G>A (p.Glu398Lys)
NM_004239.4(TRIP11):c.1268G>A (p.Arg423His)
NM_004239.4(TRIP11):c.1295C>T (p.Ser432Leu)
NM_004239.4(TRIP11):c.1409A>G (p.His470Arg) rs769103968
NM_004239.4(TRIP11):c.1457G>C (p.Ser486Thr) rs1472131979
NM_004239.4(TRIP11):c.1493A>T (p.Glu498Val) rs1380783440
NM_004239.4(TRIP11):c.1527+4A>G rs2140121640
NM_004239.4(TRIP11):c.1580G>A (p.Ser527Asn)
NM_004239.4(TRIP11):c.1580G>C (p.Ser527Thr)
NM_004239.4(TRIP11):c.1620A>C (p.Lys540Asn)
NM_004239.4(TRIP11):c.1652T>G (p.Met551Arg)
NM_004239.4(TRIP11):c.1655A>C (p.Asp552Ala)
NM_004239.4(TRIP11):c.1671A>C (p.Leu557Phe)
NM_004239.4(TRIP11):c.178A>G (p.Ile60Val)
NM_004239.4(TRIP11):c.1814A>G (p.Glu605Gly)
NM_004239.4(TRIP11):c.1820T>C (p.Leu607Ser) rs927576762
NM_004239.4(TRIP11):c.1828A>C (p.Lys610Gln)
NM_004239.4(TRIP11):c.1828_1830del (p.Lys610del) rs2140119756
NM_004239.4(TRIP11):c.185C>A (p.Ala62Glu)
NM_004239.4(TRIP11):c.1934_1939del (p.Lys645_Glu646del) rs749191728
NM_004239.4(TRIP11):c.1937A>G (p.Glu646Gly) rs369583157
NM_004239.4(TRIP11):c.1993A>G (p.Asn665Asp)
NM_004239.4(TRIP11):c.2004A>T (p.Leu668Phe) rs762335316
NM_004239.4(TRIP11):c.2015C>T (p.Ala672Val) rs1177784939
NM_004239.4(TRIP11):c.2023G>A (p.Val675Ile)
NM_004239.4(TRIP11):c.2098A>G (p.Asn700Asp) rs2056895078
NM_004239.4(TRIP11):c.210G>T (p.Arg70Ser)
NM_004239.4(TRIP11):c.2125A>G (p.Thr709Ala)
NM_004239.4(TRIP11):c.2138C>A (p.Thr713Asn) rs188524590
NM_004239.4(TRIP11):c.2147T>C (p.Met716Thr)
NM_004239.4(TRIP11):c.2189A>G (p.Lys730Arg) rs2056893267
NM_004239.4(TRIP11):c.218A>G (p.Lys73Arg)
NM_004239.4(TRIP11):c.2200G>A (p.Glu734Lys) rs2140119189
NM_004239.4(TRIP11):c.2212A>C (p.Lys738Gln)
NM_004239.4(TRIP11):c.2257A>C (p.Asn753His)
NM_004239.4(TRIP11):c.2257A>G (p.Asn753Asp)
NM_004239.4(TRIP11):c.2314G>A (p.Asp772Asn) rs775798114
NM_004239.4(TRIP11):c.2406G>T (p.Glu802Asp) rs2140118820
NM_004239.4(TRIP11):c.2433C>A (p.Asn811Lys) rs2140118782
NM_004239.4(TRIP11):c.2444_2455del (p.Ile815_Glu818del)
NM_004239.4(TRIP11):c.2455A>G (p.Lys819Glu)
NM_004239.4(TRIP11):c.2542A>G (p.Ile848Val)
NM_004239.4(TRIP11):c.2609A>T (p.Glu870Val) rs375135703
NM_004239.4(TRIP11):c.262C>G (p.Gln88Glu)
NM_004239.4(TRIP11):c.2638G>A (p.Ala880Thr)
NM_004239.4(TRIP11):c.2665G>C (p.Asp889His)
NM_004239.4(TRIP11):c.2741A>C (p.His914Pro) rs147530260
NM_004239.4(TRIP11):c.2758G>A (p.Glu920Lys)
NM_004239.4(TRIP11):c.2821G>A (p.Asp941Asn)
NM_004239.4(TRIP11):c.2884G>T (p.Asp962Tyr) rs2140118037
NM_004239.4(TRIP11):c.2909A>G (p.Lys970Arg) rs2140118009
NM_004239.4(TRIP11):c.2971T>G (p.Ser991Ala)
NM_004239.4(TRIP11):c.3014A>T (p.Glu1005Val)
NM_004239.4(TRIP11):c.312+6T>C
NM_004239.4(TRIP11):c.3133C>A (p.Gln1045Lys) rs2140117610
NM_004239.4(TRIP11):c.3167A>C (p.Lys1056Thr)
NM_004239.4(TRIP11):c.3233C>T (p.Thr1078Ile) rs2056875659
NM_004239.4(TRIP11):c.3281A>C (p.Tyr1094Ser) rs1378528757
NM_004239.4(TRIP11):c.3467G>C (p.Arg1156Thr) rs2140117119
NM_004239.4(TRIP11):c.3475A>G (p.Ile1159Val)
NM_004239.4(TRIP11):c.349C>T (p.Leu117Phe)
NM_004239.4(TRIP11):c.3619C>T (p.Leu1207Phe) rs1595387309
NM_004239.4(TRIP11):c.3622C>A (p.Leu1208Ile)
NM_004239.4(TRIP11):c.3629A>T (p.Glu1210Val)
NM_004239.4(TRIP11):c.3728A>G (p.Gln1243Arg)
NM_004239.4(TRIP11):c.3773A>T (p.Asp1258Val)
NM_004239.4(TRIP11):c.379G>C (p.Ala127Pro)
NM_004239.4(TRIP11):c.3821A>G (p.Tyr1274Cys) rs2056866244
NM_004239.4(TRIP11):c.3821A>T (p.Tyr1274Phe) rs2056866244
NM_004239.4(TRIP11):c.3823G>A (p.Glu1275Lys)
NM_004239.4(TRIP11):c.3880A>G (p.Ser1294Gly) rs781290694
NM_004239.4(TRIP11):c.3910C>A (p.Leu1304Ile) rs2140116435
NM_004239.4(TRIP11):c.3953C>G (p.Ser1318Cys)
NM_004239.4(TRIP11):c.4006G>C (p.Glu1336Gln)
NM_004239.4(TRIP11):c.4018G>A (p.Glu1340Lys)
NM_004239.4(TRIP11):c.4040A>G (p.Gln1347Arg)
NM_004239.4(TRIP11):c.4130T>C (p.Ile1377Thr) rs1595386646
NM_004239.4(TRIP11):c.4159_4161del (p.Glu1387del) rs1216670947
NM_004239.4(TRIP11):c.41A>C (p.Gln14Pro)
NM_004239.4(TRIP11):c.4280A>G (p.Asn1427Ser)
NM_004239.4(TRIP11):c.4330G>A (p.Val1444Ile) rs779575181
NM_004239.4(TRIP11):c.4330G>C (p.Val1444Leu) rs779575181
NM_004239.4(TRIP11):c.4390G>A (p.Glu1464Lys) rs2056856064
NM_004239.4(TRIP11):c.4392A>T (p.Glu1464Asp)
NM_004239.4(TRIP11):c.4418G>A (p.Arg1473Lys)
NM_004239.4(TRIP11):c.4434A>T (p.Glu1478Asp)
NM_004239.4(TRIP11):c.4447C>A (p.Gln1483Lys) rs767207472
NM_004239.4(TRIP11):c.4481G>C (p.Arg1494Pro) rs775469397
NM_004239.4(TRIP11):c.4519G>C (p.Ala1507Pro)
NM_004239.4(TRIP11):c.4567G>A (p.Gly1523Arg)
NM_004239.4(TRIP11):c.4604T>C (p.Met1535Thr)
NM_004239.4(TRIP11):c.4607A>G (p.Gln1536Arg)
NM_004239.4(TRIP11):c.4754G>A (p.Arg1585His)
NM_004239.4(TRIP11):c.4790G>A (p.Arg1597His)
NM_004239.4(TRIP11):c.4817A>G (p.Glu1606Gly)
NM_004239.4(TRIP11):c.4822A>G (p.Lys1608Glu)
NM_004239.4(TRIP11):c.4828A>G (p.Arg1610Gly) rs1566855488
NM_004239.4(TRIP11):c.4922T>C (p.Leu1641Ser)
NM_004239.4(TRIP11):c.4934T>C (p.Leu1645Ser)
NM_004239.4(TRIP11):c.5003A>G (p.Gln1668Arg)
NM_004239.4(TRIP11):c.5068A>G (p.Met1690Val) rs542557164
NM_004239.4(TRIP11):c.5161-3C>G rs2140097525
NM_004239.4(TRIP11):c.5174A>G (p.Glu1725Gly) rs2140097477
NM_004239.4(TRIP11):c.5234A>G (p.Glu1745Gly)
NM_004239.4(TRIP11):c.5285A>C (p.Asp1762Ala)
NM_004239.4(TRIP11):c.533C>T (p.Ser178Leu)
NM_004239.4(TRIP11):c.5359C>T (p.Leu1787Phe) rs2056450408
NM_004239.4(TRIP11):c.5409A>T (p.Leu1803Phe)
NM_004239.4(TRIP11):c.5411G>A (p.Arg1804Gln)
NM_004239.4(TRIP11):c.5479G>T (p.Gly1827Cys) rs1051340
NM_004239.4(TRIP11):c.5530C>G (p.Pro1844Ala)
NM_004239.4(TRIP11):c.5555A>G (p.Gln1852Arg)
NM_004239.4(TRIP11):c.5663C>T (p.Pro1888Leu)
NM_004239.4(TRIP11):c.5744GAA[3] (p.Arg1916_Thr1917insArg)
NM_004239.4(TRIP11):c.5762C>T (p.Pro1921Leu)
NM_004239.4(TRIP11):c.586C>G (p.Gln196Glu) rs149079426
NM_004239.4(TRIP11):c.5885C>T (p.Pro1962Leu)
NM_004239.4(TRIP11):c.5888C>T (p.Ala1963Val)
NM_004239.4(TRIP11):c.604G>A (p.Gly202Arg)
NM_004239.4(TRIP11):c.633A>G (p.Ile211Met) rs2140133290
NM_004239.4(TRIP11):c.658-18_658-17insGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_004239.4(TRIP11):c.688G>A (p.Asp230Asn)
NM_004239.4(TRIP11):c.863A>G (p.Tyr288Cys)
NM_004239.4(TRIP11):c.953T>C (p.Ile318Thr)
NM_004239.4(TRIP11):c.961A>G (p.Lys321Glu)
NM_004239.4(TRIP11):c.981T>A (p.Asn327Lys)

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