ClinVar Miner

List of variants in gene TRIP11 reported as pathogenic for achondrogenesis type IA

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) rs139539448 0.00217
NM_004239.4(TRIP11):c.81dup (p.Gly28fs) rs779038293 0.00002
NM_004239.4(TRIP11):c.2557C>T (p.Arg853Ter) rs1053206465 0.00001
NM_004239.4(TRIP11):c.2611C>T (p.Arg871Ter) rs999557873 0.00001
NM_004239.4(TRIP11):c.2782C>T (p.Gln928Ter) rs1257379792 0.00001
NM_004239.4(TRIP11):c.526C>T (p.Arg176Ter) rs758589172 0.00001
NM_004239.4(TRIP11):c.1280T>A (p.Leu427Ter) rs34761938
NM_004239.4(TRIP11):c.1622dup (p.Arg542fs)
NM_004239.4(TRIP11):c.1938_1941del (p.Arg647fs) rs773312108
NM_004239.4(TRIP11):c.1987dup (p.Gln663fs) rs2140119519
NM_004239.4(TRIP11):c.202-2A>G rs863223281
NM_004239.4(TRIP11):c.2123del (p.Asn708fs) rs747106242
NM_004239.4(TRIP11):c.2123dup (p.Asn708fs) rs747106242
NM_004239.4(TRIP11):c.2128_2129del (p.Ile710fs) rs1566860640
NM_004239.4(TRIP11):c.2304_2307del (p.Asn768fs) rs1294029121
NM_004239.4(TRIP11):c.2448dup (p.Ile817fs)
NM_004239.4(TRIP11):c.2467_2470del (p.Arg823fs) rs764561670
NM_004239.4(TRIP11):c.2911dup (p.Thr971fs)
NM_004239.4(TRIP11):c.3104_3105insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGATTAAACTTCT (p.Leu1035_Asn1036insPhePhePhePhePhePheXaaXaaXaaXaaSerThrArgLeuGlyLeuProLysCysTrpAspTyrArgArgGluProProArgProAlaGluIleLysLeuLeu)
NM_004239.4(TRIP11):c.3173del (p.Thr1058fs)
NM_004239.4(TRIP11):c.3268C>T (p.Gln1090Ter)
NM_004239.4(TRIP11):c.3352_3353del (p.Glu1118fs) rs1566859264
NM_004239.4(TRIP11):c.3477del (p.Gln1160fs) rs2056871742
NM_004239.4(TRIP11):c.3478C>T (p.Gln1160Ter) rs1595387492
NM_004239.4(TRIP11):c.3507del (p.Asp1170fs)
NM_004239.4(TRIP11):c.3641del (p.Lys1213_Leu1214insTer)
NM_004239.4(TRIP11):c.3671G>A (p.Trp1224Ter) rs776935608
NM_004239.4(TRIP11):c.4127C>A (p.Ser1376Ter) rs1045076800
NM_004239.4(TRIP11):c.4432_4433del (p.Glu1478fs)
NM_004239.4(TRIP11):c.4459_4460del (p.Met1487fs) rs2140115541
NM_004239.4(TRIP11):c.4508_4511del (p.Met1503fs)
NM_004239.4(TRIP11):c.4551_4554del (p.Lys1517fs)
NM_004239.4(TRIP11):c.5269C>T (p.Arg1757Ter)
NM_004239.4(TRIP11):c.5392C>T (p.Gln1798Ter)
NM_004239.4(TRIP11):c.5420G>T (p.Gly1807Val) rs2056449254
NM_004239.4(TRIP11):c.5457+81T>A rs2056447170
NM_004239.4(TRIP11):c.5519C>G (p.Ser1840Ter)
NM_004239.4(TRIP11):c.581_582insA (p.Ala195fs)
NM_004239.4(TRIP11):c.617_618del (p.Asn205_Ser206insTer) rs1566867763
NM_004239.4(TRIP11):c.763C>T (p.Arg255Ter) rs2140131376
NM_004239.4(TRIP11):c.774_777del (p.Ser259fs) rs2057028176
NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter) rs267607138
NM_004239.4(TRIP11):c.877dup (p.Thr293fs)
NM_004239.4(TRIP11):c.922del (p.Met308fs) rs780178406
NM_004239.4(TRIP11):c.944_948del (p.Ile315fs)
NM_004239.4(TRIP11):c.988_989del (p.Asp330fs) rs750602133

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.