ClinVar Miner

List of variants reported as likely benign for achondrogenesis type IA

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 206
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004239.4(TRIP11):c.*288C>A rs61988386 0.01041
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) rs143524436 0.00835
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His) rs41301481 0.00236
NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln) rs137974620 0.00232
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) rs139539448 0.00217
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr) rs148261539 0.00204
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=) rs144780536 0.00202
NM_004239.4(TRIP11):c.5056+11C>T rs199549473 0.00170
NM_004239.4(TRIP11):c.5125G>A (p.Ala1709Thr) rs141965887 0.00167
NM_004239.4(TRIP11):c.217A>G (p.Lys73Glu) rs114300046 0.00145
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) rs141553918 0.00133
NM_004239.4(TRIP11):c.1280T>C (p.Leu427Ser) rs34761938 0.00103
NM_004239.4(TRIP11):c.5010T>C (p.Ala1670=) rs149334552 0.00103
NM_004239.4(TRIP11):c.4069C>A (p.Gln1357Lys) rs144829001 0.00101
NM_004239.4(TRIP11):c.4063T>A (p.Ser1355Thr) rs138661581 0.00095
NM_004239.4(TRIP11):c.1589G>A (p.Ser530Asn) rs138304419 0.00093
NM_004239.4(TRIP11):c.*290A>G rs189206458 0.00081
NM_004239.4(TRIP11):c.1952T>C (p.Val651Ala) rs35991093 0.00068
NM_004239.4(TRIP11):c.42G>A (p.Gln14=) rs61740833 0.00065
NM_004239.4(TRIP11):c.4173C>T (p.Thr1391=) rs140070005 0.00058
NM_004239.4(TRIP11):c.5887G>A (p.Ala1963Thr) rs61742059 0.00058
NM_004239.4(TRIP11):c.9C>T (p.Ser3=) rs148398142 0.00055
NM_004239.4(TRIP11):c.214A>G (p.Lys72Glu) rs548721041 0.00054
NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile) rs141259390 0.00050
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=) rs72705400 0.00049
NM_004239.4(TRIP11):c.3264A>G (p.Gln1088=) rs138702943 0.00047
NM_004239.4(TRIP11):c.5085C>T (p.Leu1695=) rs138379032 0.00035
NM_004239.4(TRIP11):c.5124C>T (p.Asn1708=) rs143872244 0.00031
NM_004239.4(TRIP11):c.202-11T>G rs561503305 0.00027
NM_004239.4(TRIP11):c.107A>T (p.Asp36Val) rs186074112 0.00026
NM_004239.4(TRIP11):c.754C>A (p.Arg252=) rs186197454 0.00025
NM_004239.4(TRIP11):c.5889G>A (p.Ala1963=) rs142075650 0.00024
NM_004239.4(TRIP11):c.4149A>G (p.Leu1383=) rs369890403 0.00019
NM_004239.4(TRIP11):c.1568A>G (p.Asn523Ser) rs149639792 0.00017
NM_004239.4(TRIP11):c.2382C>T (p.Asp794=) rs372227102 0.00016
NM_004239.4(TRIP11):c.5239A>G (p.Ile1747Val) rs137914270 0.00016
NM_004239.4(TRIP11):c.4608G>A (p.Gln1536=) rs150069453 0.00014
NM_004239.4(TRIP11):c.2357A>C (p.Asp786Ala) rs201394520 0.00013
NM_004239.4(TRIP11):c.321C>T (p.Ile107=) rs372045593 0.00012
NM_004239.4(TRIP11):c.4983C>T (p.Val1661=) rs201628289 0.00011
NM_004239.4(TRIP11):c.1186+14G>A rs371492052 0.00010
NM_004239.4(TRIP11):c.3078A>G (p.Lys1026=) rs370090737 0.00010
NM_004239.4(TRIP11):c.2226C>T (p.Thr742=) rs754326584 0.00009
NM_004239.4(TRIP11):c.3165T>C (p.Gly1055=) rs369633634 0.00006
NM_004239.4(TRIP11):c.783T>C (p.Tyr261=) rs145020414 0.00005
NM_004239.4(TRIP11):c.2829T>C (p.Phe943=) rs758437737 0.00004
NM_004239.4(TRIP11):c.3441T>C (p.Phe1147=) rs757706030 0.00004
NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys) rs201607866 0.00004
NM_004239.4(TRIP11):c.438C>T (p.Phe146=) rs371786500 0.00004
NM_004239.4(TRIP11):c.5400T>C (p.His1800=) rs371499684 0.00004
NM_004239.4(TRIP11):c.5637A>G (p.Pro1879=) rs772959811 0.00004
NM_004239.4(TRIP11):c.1587C>T (p.Ile529=) rs762961289 0.00003
NM_004239.4(TRIP11):c.2916T>C (p.Ile972=) rs1160135660 0.00003
NM_004239.4(TRIP11):c.4128G>T (p.Ser1376=) rs373454645 0.00003
NM_004239.4(TRIP11):c.4206A>G (p.Gln1402=) rs746081059 0.00003
NM_004239.4(TRIP11):c.4443G>A (p.Ala1481=) rs372272441 0.00003
NM_004239.4(TRIP11):c.5574+19C>A rs561150244 0.00003
NM_004239.4(TRIP11):c.975A>G (p.Ala325=) rs143126491 0.00003
NM_004239.4(TRIP11):c.2720A>G (p.His907Arg) rs199740201 0.00002
NM_004239.4(TRIP11):c.3547T>C (p.Leu1183=) rs770035158 0.00002
NM_004239.4(TRIP11):c.3669G>A (p.Glu1223=) rs144920623 0.00002
NM_004239.4(TRIP11):c.4339C>T (p.Leu1447=) rs754283737 0.00002
NM_004239.4(TRIP11):c.477C>T (p.Asp159=) rs147932068 0.00002
NM_004239.4(TRIP11):c.5457+10C>T rs781085529 0.00002
NM_004239.4(TRIP11):c.657+16G>C rs752274274 0.00002
NM_004239.4(TRIP11):c.657+9A>C rs182914589 0.00002
NM_004239.4(TRIP11):c.1173A>G (p.Gln391=) rs747940125 0.00001
NM_004239.4(TRIP11):c.1272C>T (p.Ile424=) rs750544930 0.00001
NM_004239.4(TRIP11):c.1432G>A (p.Ala478Thr) rs201112407 0.00001
NM_004239.4(TRIP11):c.1530C>T (p.His510=) rs201718152 0.00001
NM_004239.4(TRIP11):c.1578T>C (p.Asp526=) rs1030941975 0.00001
NM_004239.4(TRIP11):c.1818T>C (p.Asn606=) rs773745539 0.00001
NM_004239.4(TRIP11):c.231T>C (p.Asp77=) rs1274694103 0.00001
NM_004239.4(TRIP11):c.2595G>A (p.Leu865=) rs751594257 0.00001
NM_004239.4(TRIP11):c.297A>G (p.Gln99=) rs1427804097 0.00001
NM_004239.4(TRIP11):c.3327T>C (p.Thr1109=) rs767150020 0.00001
NM_004239.4(TRIP11):c.3903C>T (p.Thr1301=) rs754046173 0.00001
NM_004239.4(TRIP11):c.4266A>G (p.Gln1422=) rs774335020 0.00001
NM_004239.4(TRIP11):c.4434A>G (p.Glu1478=) rs201733332 0.00001
NM_004239.4(TRIP11):c.4892+12A>T rs768218216 0.00001
NM_004239.4(TRIP11):c.5188T>C (p.Leu1730=) rs751436632 0.00001
NM_004239.4(TRIP11):c.5334A>G (p.Lys1778=) rs1278413331 0.00001
NM_004239.4(TRIP11):c.5571T>C (p.Asn1857=) rs369316409 0.00001
NM_004239.4(TRIP11):c.5607A>G (p.Glu1869=) rs764596712 0.00001
NM_004239.4(TRIP11):c.5805A>G (p.Pro1935=) rs1465680661 0.00001
NM_004239.4(TRIP11):c.5811A>C (p.Gly1937=) rs748645116 0.00001
NM_004239.4(TRIP11):c.5922A>G (p.Lys1974=) rs151317471 0.00001
NM_004239.4(TRIP11):c.663A>G (p.Leu221=) rs1447964928 0.00001
NM_004239.4(TRIP11):c.969T>G (p.Ser323=) rs768358054 0.00001
NM_004239.4(TRIP11):c.1030A>C (p.Arg344=) rs2140129658
NM_004239.4(TRIP11):c.1179A>C (p.Ala393=)
NM_004239.4(TRIP11):c.1186+10C>G
NM_004239.4(TRIP11):c.1186+18C>G
NM_004239.4(TRIP11):c.1191C>T (p.Ala397=)
NM_004239.4(TRIP11):c.1227+15A>G
NM_004239.4(TRIP11):c.1228-4G>A
NM_004239.4(TRIP11):c.1315-12T>C
NM_004239.4(TRIP11):c.1315-14T>C
NM_004239.4(TRIP11):c.1317A>G (p.Glu439=) rs1260783301
NM_004239.4(TRIP11):c.140-20A>G
NM_004239.4(TRIP11):c.1527+7C>G rs372704269
NM_004239.4(TRIP11):c.1527+9G>T
NM_004239.4(TRIP11):c.1605T>C (p.Asp535=)
NM_004239.4(TRIP11):c.1731C>T (p.Thr577=)
NM_004239.4(TRIP11):c.1743T>A (p.Leu581=)
NM_004239.4(TRIP11):c.1788A>G (p.Gln596=)
NM_004239.4(TRIP11):c.1812G>A (p.Lys604=)
NM_004239.4(TRIP11):c.1833G>A (p.Glu611=) rs1157724726
NM_004239.4(TRIP11):c.1849GAG[2] (p.Glu619del) rs540412862
NM_004239.4(TRIP11):c.1887G>A (p.Gln629=)
NM_004239.4(TRIP11):c.1974T>C (p.Leu658=)
NM_004239.4(TRIP11):c.201+10A>C
NM_004239.4(TRIP11):c.201+14_201+15del
NM_004239.4(TRIP11):c.201+15dup
NM_004239.4(TRIP11):c.202-4C>G rs760649001
NM_004239.4(TRIP11):c.2044T>C (p.Leu682=)
NM_004239.4(TRIP11):c.210G>A (p.Arg70=) rs1364966765
NM_004239.4(TRIP11):c.2247A>G (p.Ala749=)
NM_004239.4(TRIP11):c.2289T>C (p.His763=)
NM_004239.4(TRIP11):c.2391A>G (p.Ser797=) rs750316685
NM_004239.4(TRIP11):c.2421A>G (p.Thr807=)
NM_004239.4(TRIP11):c.24C>G (p.Leu8=)
NM_004239.4(TRIP11):c.2547G>A (p.Glu849=)
NM_004239.4(TRIP11):c.2605T>C (p.Leu869=)
NM_004239.4(TRIP11):c.2610A>G (p.Glu870=)
NM_004239.4(TRIP11):c.2637C>T (p.Thr879=)
NM_004239.4(TRIP11):c.2655T>G (p.Pro885=) rs780729641
NM_004239.4(TRIP11):c.2700A>G (p.Gln900=)
NM_004239.4(TRIP11):c.2853C>T (p.Asn951=)
NM_004239.4(TRIP11):c.2875T>C (p.Leu959=)
NM_004239.4(TRIP11):c.2883G>A (p.Lys961=)
NM_004239.4(TRIP11):c.2907A>G (p.Gln969=) rs2056881127
NM_004239.4(TRIP11):c.2985A>G (p.Gln995=)
NM_004239.4(TRIP11):c.3054G>A (p.Thr1018=)
NM_004239.4(TRIP11):c.3091G>A (p.Glu1031Lys)
NM_004239.4(TRIP11):c.312+12C>A rs1483056188
NM_004239.4(TRIP11):c.312+14_312+15del
NM_004239.4(TRIP11):c.313-18T>G rs2140137748
NM_004239.4(TRIP11):c.313-6A>G
NM_004239.4(TRIP11):c.3216T>C (p.His1072=) rs2056875931
NM_004239.4(TRIP11):c.3270A>G (p.Gln1090=)
NM_004239.4(TRIP11):c.3660A>G (p.Lys1220=)
NM_004239.4(TRIP11):c.3708A>G (p.Gln1236=)
NM_004239.4(TRIP11):c.3756G>A (p.Gln1252=)
NM_004239.4(TRIP11):c.3783T>A (p.Ser1261=)
NM_004239.4(TRIP11):c.384T>C (p.Ala128=)
NM_004239.4(TRIP11):c.3864A>G (p.Leu1288=) rs2140116561
NM_004239.4(TRIP11):c.3903C>G (p.Thr1301=)
NM_004239.4(TRIP11):c.4012T>C (p.Leu1338=)
NM_004239.4(TRIP11):c.4020A>G (p.Glu1340=)
NM_004239.4(TRIP11):c.4128G>A (p.Ser1376=) rs373454645
NM_004239.4(TRIP11):c.4194A>G (p.Leu1398=)
NM_004239.4(TRIP11):c.4230G>A (p.Lys1410=)
NM_004239.4(TRIP11):c.429A>G (p.Ser143=)
NM_004239.4(TRIP11):c.4311C>T (p.Asn1437=)
NM_004239.4(TRIP11):c.4413A>G (p.Thr1471=)
NM_004239.4(TRIP11):c.4416C>T (p.Tyr1472=)
NM_004239.4(TRIP11):c.4536G>A (p.Gln1512=)
NM_004239.4(TRIP11):c.4557+13T>A
NM_004239.4(TRIP11):c.4557+15G>T
NM_004239.4(TRIP11):c.4558-11C>A
NM_004239.4(TRIP11):c.4558-18A>C rs201561387
NM_004239.4(TRIP11):c.4558-18A>T
NM_004239.4(TRIP11):c.4558-5A>G
NM_004239.4(TRIP11):c.4558-8T>C rs1467540429
NM_004239.4(TRIP11):c.465A>C (p.Ser155=)
NM_004239.4(TRIP11):c.4698+15T>C rs1595382942
NM_004239.4(TRIP11):c.4698+17_4698+22del
NM_004239.4(TRIP11):c.4699-13G>A
NM_004239.4(TRIP11):c.4761T>C (p.His1587=)
NM_004239.4(TRIP11):c.4892+19T>G
NM_004239.4(TRIP11):c.4965T>G (p.Thr1655=) rs2140105713
NM_004239.4(TRIP11):c.4968G>A (p.Ala1656=) rs768646025
NM_004239.4(TRIP11):c.4968G>T (p.Ala1656=)
NM_004239.4(TRIP11):c.5007T>C (p.Tyr1669=) rs2140105655
NM_004239.4(TRIP11):c.5026C>T (p.Leu1676=)
NM_004239.4(TRIP11):c.5056+12G>A
NM_004239.4(TRIP11):c.5155T>C (p.Leu1719=)
NM_004239.4(TRIP11):c.5160+11A>T
NM_004239.4(TRIP11):c.5161-18T>C
NM_004239.4(TRIP11):c.5199A>T (p.Ala1733=)
NM_004239.4(TRIP11):c.5211A>G (p.Thr1737=)
NM_004239.4(TRIP11):c.5260+18C>T
NM_004239.4(TRIP11):c.5261-7A>T
NM_004239.4(TRIP11):c.5343-18C>T
NM_004239.4(TRIP11):c.5343-4A>G
NM_004239.4(TRIP11):c.5346C>T (p.Val1782=)
NM_004239.4(TRIP11):c.5433C>T (p.Gly1811=)
NM_004239.4(TRIP11):c.5457+11G>A
NM_004239.4(TRIP11):c.5458-15A>G
NM_004239.4(TRIP11):c.5549C>T (p.Pro1850Leu)
NM_004239.4(TRIP11):c.5568T>A (p.Val1856=)
NM_004239.4(TRIP11):c.567C>T (p.Gly189=)
NM_004239.4(TRIP11):c.5719+13A>T
NM_004239.4(TRIP11):c.5754T>C (p.Asp1918=)
NM_004239.4(TRIP11):c.5829C>T (p.Pro1943=) rs748903681
NM_004239.4(TRIP11):c.5838T>C (p.Leu1946=)
NM_004239.4(TRIP11):c.589-11_589-10del
NM_004239.4(TRIP11):c.618T>C (p.Ser206=) rs200485291
NM_004239.4(TRIP11):c.657+12del
NM_004239.4(TRIP11):c.658-13_658-11del rs2140131557
NM_004239.4(TRIP11):c.658-18T>G
NM_004239.4(TRIP11):c.661C>T (p.Leu221=)
NM_004239.4(TRIP11):c.75C>T (p.Ser25=)
NM_004239.4(TRIP11):c.824-9A>G rs2140129910
NM_004239.4(TRIP11):c.885A>G (p.Gln295=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.