ClinVar Miner

List of variants in gene TRIP11 studied for achondrogenesis

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 129
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HGVS dbSNP
NM_004239.3(TRIP11):c.586C>T
NM_004239.4(TRIP11):c.*100A>G rs144403505
NM_004239.4(TRIP11):c.*1060C>T rs10142576
NM_004239.4(TRIP11):c.*1194A>G rs886050894
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.*1554T>A rs11848545
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.*290A>G rs189206458
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.*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.*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.*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.-365C>G rs74071824
NM_004239.4(TRIP11):c.-58C>T rs886050909
NM_004239.4(TRIP11):c.-61C>T rs78222479
NM_004239.4(TRIP11):c.107A>T (p.Asp36Val) rs186074112
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)
NM_004239.4(TRIP11):c.1271T>G (p.Ile424Ser)
NM_004239.4(TRIP11):c.1280T>A (p.Leu427Ter)
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.1527+6A>G rs17127844
NM_004239.4(TRIP11):c.1547A>G (p.Asp516Gly) rs1018806781
NM_004239.4(TRIP11):c.1689G>A (p.Lys563=) rs749219134
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.1904C>G (p.Ser635Cys) rs59635749
NM_004239.4(TRIP11):c.1933_1936AAAG[1] (p.Arg647Lysfs)
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.Ile710Cysfs)
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) rs143524436
NM_004239.4(TRIP11):c.2138C>A (p.Thr713Asn)
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.2304_2307del (p.Asn768Lysfs)
NM_004239.4(TRIP11):c.2357A>C (p.Asp786Ala) rs201394520
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.Lys833Ilefs) rs1085307101
NM_004239.4(TRIP11):c.2557C>T (p.Arg853Ter)
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.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.3306T>C (p.Phe1102=) rs34151071
NM_004239.4(TRIP11):c.3352_3353delGA (p.Glu1118Ilefs)
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.3714G>A (p.Glu1238=) rs34919898
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.4050A>C (p.Glu1350Asp) rs548160101
NM_004239.4(TRIP11):c.405T>C (p.Ala135=) rs77981249
NM_004239.4(TRIP11):c.4063T>A (p.Ser1355Thr) rs138661581
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.425C>T (p.Ala142Val) rs766014867
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.4699-4C>G rs886050905
NM_004239.4(TRIP11):c.4727G>A (p.Arg1576His) rs35007347
NM_004239.4(TRIP11):c.4776A>G (p.Glu1592=) rs370124193
NM_004239.4(TRIP11):c.4780T>G (p.Ser1594Ala) rs886050904
NM_004239.4(TRIP11):c.4812T>C (p.Asp1604=) rs17127837
NM_004239.4(TRIP11):c.5086G>A (p.Glu1696Lys) rs80200454
NM_004239.4(TRIP11):c.5149A>T (p.Ile1717Leu)
NM_004239.4(TRIP11):c.5169G>A (p.Leu1723=) rs2038276
NM_004239.4(TRIP11):c.5192A>G (p.Asp1731Gly) rs536393273
NM_004239.4(TRIP11):c.5255G>A (p.Arg1752Lys) rs11851376
NM_004239.4(TRIP11):c.5457+13T>A rs886050903
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)
NM_004239.4(TRIP11):c.5571T>C (p.Asn1857=) rs369316409
NM_004239.4(TRIP11):c.5651A>G (p.His1884Arg) rs74071672
NM_004239.4(TRIP11):c.5719+2T>C rs199736345
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.617_618delCT (p.Ser206Terfs)
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.790C>T (p.Arg264Ter) rs267607138
NM_004239.4(TRIP11):c.823+4A>T rs778772980
NM_004239.4(TRIP11):c.830C>G (p.Ser277Cys) rs373532678
NP_004230.2(TRIP11):p.Trp1224Ter

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