ClinVar Miner

List of variants reported as pathogenic for achondrogenesis type IA by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_004239.4(TRIP11):c.3082C>T (p.Arg1028Ter) rs149562813 0.00007
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) rs1420691965
NM_004239.4(TRIP11):c.1886del (p.Gln629fs)
NM_004239.4(TRIP11):c.1938_1941del (p.Arg647fs) rs773312108
NM_004239.4(TRIP11):c.1987dup (p.Gln663fs) rs2140119519
NM_004239.4(TRIP11):c.2123del (p.Asn708fs) rs747106242
NM_004239.4(TRIP11):c.2123dup (p.Asn708fs) rs747106242
NM_004239.4(TRIP11):c.2448dup (p.Ile817fs) rs1468013861
NM_004239.4(TRIP11):c.2467_2470del (p.Arg823fs) rs764561670
NM_004239.4(TRIP11):c.2911dup (p.Thr971fs) rs2543031034
NM_004239.4(TRIP11):c.3104_3105insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGATTAAACTTCT (p.Leu1035_Asn1036insPhePhePhePhePhePheXaaXaaXaaXaaSerThrArgLeuGlyLeuProLysCysTrpAspTyrArgArgGluProProArgProAlaGluIleLysLeuLeu) rs2543030185
NM_004239.4(TRIP11):c.3173del (p.Thr1058fs) rs2543029888
NM_004239.4(TRIP11):c.3268C>T (p.Gln1090Ter) rs2543029378
NM_004239.4(TRIP11):c.3352_3353del (p.Glu1118fs) rs1566859264
NM_004239.4(TRIP11):c.3477del (p.Gln1160fs) rs2056871742
NM_004239.4(TRIP11):c.3499C>T (p.Arg1167Ter)
NM_004239.4(TRIP11):c.3507del (p.Asp1170fs) rs2543028196
NM_004239.4(TRIP11):c.3641del (p.Lys1213_Leu1214insTer) rs2543027578
NM_004239.4(TRIP11):c.4432_4433del (p.Glu1478fs) rs1366285612
NM_004239.4(TRIP11):c.4508_4511del (p.Met1503fs) rs1415530626
NM_004239.4(TRIP11):c.4551_4554del (p.Lys1517fs) rs1476093958
NM_004239.4(TRIP11):c.5392C>T (p.Gln1798Ter) rs760028443
NM_004239.4(TRIP11):c.5519C>G (p.Ser1840Ter) rs2056442109
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) rs1425769432
NM_004239.4(TRIP11):c.922del (p.Met308fs) rs780178406
NM_004239.4(TRIP11):c.944_948del (p.Ile315fs) rs2543059288
NM_004239.4(TRIP11):c.988_989del (p.Asp330fs) rs750602133

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