ClinVar Miner

List of variants reported as likely benign 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: 228
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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.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.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.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.5469C>T (p.Asp1823=) rs762580256 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.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.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.1057T>C (p.Leu353=)
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.1187-17A>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.1233C>T (p.Asn411=)
NM_004239.4(TRIP11):c.1300C>T (p.Leu434=)
NM_004239.4(TRIP11):c.1314+10G>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.139+7G>T
NM_004239.4(TRIP11):c.140-20A>G
NM_004239.4(TRIP11):c.140-4G>A
NM_004239.4(TRIP11):c.1527+7C>G rs372704269
NM_004239.4(TRIP11):c.1527+9G>T
NM_004239.4(TRIP11):c.1527+9_1527+10del
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.2238G>A (p.Leu746=)
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.2835C>T (p.Tyr945=)
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.3030G>A (p.Lys1010=)
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.313-12A>T
NM_004239.4(TRIP11):c.313-18T>G rs2140137748
NM_004239.4(TRIP11):c.313-4A>G
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.3411A>G (p.Gln1137=)
NM_004239.4(TRIP11):c.3417A>G (p.Glu1139=)
NM_004239.4(TRIP11):c.3450T>C (p.Ser1150=)
NM_004239.4(TRIP11):c.3591A>T (p.Gly1197=)
NM_004239.4(TRIP11):c.3645A>G (p.Lys1215=)
NM_004239.4(TRIP11):c.3660A>G (p.Lys1220=)
NM_004239.4(TRIP11):c.3666A>G (p.Glu1222=) rs769979770
NM_004239.4(TRIP11):c.3693A>G (p.Thr1231=)
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.4362A>G (p.Leu1454=)
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.4602A>G (p.Ser1534=)
NM_004239.4(TRIP11):c.4651T>C (p.Leu1551=)
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.4950G>A (p.Lys1650=)
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.5349A>C (p.Leu1783=)
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.5616T>C (p.Ser1872=)
NM_004239.4(TRIP11):c.5676A>G (p.Pro1892=)
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.696T>C (p.His232=)
NM_004239.4(TRIP11):c.717G>A (p.Leu239=)
NM_004239.4(TRIP11):c.75C>T (p.Ser25=)
NM_004239.4(TRIP11):c.823+18T>C
NM_004239.4(TRIP11):c.824-7G>A
NM_004239.4(TRIP11):c.824-9A>G rs2140129910
NM_004239.4(TRIP11):c.885A>G (p.Gln295=)
NM_004239.4(TRIP11):c.966A>G (p.Leu322=)

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