ClinVar Miner

List of variants studied for Spondyloepiphyseal dysplasia with congenital joint dislocations by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 264
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HGVS dbSNP gnomAD frequency
NM_004273.5(CHST3):c.*763C>A rs4148941 0.66871
NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln) rs3740129 0.36267
NM_004273.5(CHST3):c.1160G>A (p.Arg387His) rs145384892 0.00906
NM_004273.5(CHST3):c.1173C>A (p.Ile391=) rs115579748 0.00702
NM_004273.5(CHST3):c.108C>G (p.Val36=) rs77124584 0.00681
NM_004273.5(CHST3):c.417C>T (p.Ala139=) rs144287889 0.00564
NM_004273.5(CHST3):c.1347C>T (p.Arg449=) rs200249458 0.00498
NM_004273.5(CHST3):c.561G>C (p.Val187=) rs147804585 0.00444
NM_004273.5(CHST3):c.1428C>T (p.Phe476=) rs75845750 0.00421
NM_004273.5(CHST3):c.828C>T (p.Arg276=) rs140547825 0.00370
NM_004273.5(CHST3):c.1197C>T (p.Asp399=) rs184636110 0.00090
NM_004273.5(CHST3):c.959C>G (p.Thr320Ser) rs535309495 0.00077
NM_004273.5(CHST3):c.465G>C (p.Gln155His) rs200547164 0.00072
NM_004273.5(CHST3):c.1251G>C (p.Thr417=) rs140411224 0.00070
NM_004273.5(CHST3):c.1135C>T (p.Leu379=) rs564028722 0.00048
NM_004273.5(CHST3):c.348G>T (p.Glu116Asp) rs144885813 0.00048
NM_004273.5(CHST3):c.1003G>A (p.Glu335Lys) rs150466838 0.00043
NM_004273.5(CHST3):c.528G>A (p.Pro176=) rs373748456 0.00039
NM_004273.5(CHST3):c.1044C>G (p.Ile348Met) rs3740128 0.00031
NM_004273.5(CHST3):c.980A>C (p.Asp327Ala) rs573403001 0.00029
NM_004273.5(CHST3):c.1363C>G (p.Leu455Val) rs374954414 0.00018
NM_004273.5(CHST3):c.114C>T (p.Ile38=) rs374590185 0.00014
NM_004273.5(CHST3):c.423G>A (p.Thr141=) rs376107245 0.00012
NM_004273.5(CHST3):c.570C>T (p.Asp190=) rs367857089 0.00012
NM_004273.5(CHST3):c.1324G>A (p.Ala442Thr) rs776562348 0.00011
NM_004273.5(CHST3):c.296T>C (p.Leu99Ser) rs144218298 0.00009
NM_004273.5(CHST3):c.513A>G (p.Thr171=) rs567771631 0.00007
NM_004273.5(CHST3):c.624G>A (p.Thr208=) rs145440508 0.00006
NM_004273.5(CHST3):c.269T>C (p.Leu90Pro) rs138203946 0.00005
NM_004273.5(CHST3):c.276C>A (p.Ser92Arg) rs777858428 0.00005
NM_004273.5(CHST3):c.37G>A (p.Asp13Asn) rs376899300 0.00005
NM_004273.5(CHST3):c.384G>A (p.Val128=) rs752749595 0.00005
NM_004273.5(CHST3):c.268C>T (p.Leu90Phe) rs146344177 0.00004
NM_004273.5(CHST3):c.377C>T (p.Pro126Leu) rs371091098 0.00004
NM_004273.5(CHST3):c.540C>T (p.Asn180=) rs748812857 0.00004
NM_004273.5(CHST3):c.7A>G (p.Lys3Glu) rs199515173 0.00004
NM_004273.5(CHST3):c.993C>T (p.Asp331=) rs767254314 0.00004
NM_004273.5(CHST3):c.1056G>C (p.Ala352=) rs779966805 0.00003
NM_004273.5(CHST3):c.1184C>T (p.Pro395Leu) rs756147851 0.00003
NM_004273.5(CHST3):c.244G>A (p.Glu82Lys) rs368468468 0.00003
NM_004273.5(CHST3):c.271C>T (p.Gln91Ter) rs756133268 0.00003
NM_004273.5(CHST3):c.306C>A (p.Gly102=) rs776007496 0.00003
NM_004273.5(CHST3):c.316G>A (p.Ala106Thr) rs377655915 0.00003
NM_004273.5(CHST3):c.320T>A (p.Met107Lys) rs765024887 0.00003
NM_004273.5(CHST3):c.368C>T (p.Pro123Leu) rs753956495 0.00003
NM_004273.5(CHST3):c.447C>T (p.Gly149=) rs995812238 0.00003
NM_004273.5(CHST3):c.475T>A (p.Phe159Ile) rs145538723 0.00003
NM_004273.5(CHST3):c.518C>T (p.Ser173Phe) rs751961615 0.00003
NM_004273.5(CHST3):c.552G>A (p.Ser184=) rs775287488 0.00003
NM_004273.5(CHST3):c.791G>A (p.Cys264Tyr) rs942951728 0.00003
NM_004273.5(CHST3):c.100G>A (p.Val34Ile) rs752248101 0.00002
NM_004273.5(CHST3):c.1058A>C (p.Glu353Ala) rs2131776149 0.00002
NM_004273.5(CHST3):c.1076C>T (p.Pro359Leu) rs1193910975 0.00002
NM_004273.5(CHST3):c.1166C>T (p.Ala389Val) rs766952355 0.00002
NM_004273.5(CHST3):c.1242C>G (p.Ile414Met) rs1004650270 0.00002
NM_004273.5(CHST3):c.133A>T (p.Ile45Leu) rs756821052 0.00002
NM_004273.5(CHST3):c.1365G>A (p.Leu455=) rs749488516 0.00002
NM_004273.5(CHST3):c.1414G>A (p.Glu472Lys) rs779698260 0.00002
NM_004273.5(CHST3):c.202G>A (p.Ala68Thr) rs142556853 0.00002
NM_004273.5(CHST3):c.334G>A (p.Glu112Lys) rs751470049 0.00002
NM_004273.5(CHST3):c.711C>T (p.Phe237=) rs1050116997 0.00002
NM_004273.5(CHST3):c.1031A>G (p.Asn344Ser) rs777739643 0.00001
NM_004273.5(CHST3):c.1060C>T (p.Leu354=) rs1840064922 0.00001
NM_004273.5(CHST3):c.111C>T (p.Phe37=) rs371428228 0.00001
NM_004273.5(CHST3):c.1134G>A (p.Pro378=) rs893941954 0.00001
NM_004273.5(CHST3):c.1167C>T (p.Ala389=) rs1380183951 0.00001
NM_004273.5(CHST3):c.1254G>A (p.Gln418=) rs778084595 0.00001
NM_004273.5(CHST3):c.1275C>T (p.Phe425=) rs1371127681 0.00001
NM_004273.5(CHST3):c.1304A>G (p.Lys435Arg) rs1420630983 0.00001
NM_004273.5(CHST3):c.1326C>T (p.Ala442=) rs1231575554 0.00001
NM_004273.5(CHST3):c.1332C>T (p.Cys444=) rs1216480002 0.00001
NM_004273.5(CHST3):c.1394G>A (p.Arg465His) rs569940449 0.00001
NM_004273.5(CHST3):c.1420G>A (p.Gly474Ser) rs1316281967 0.00001
NM_004273.5(CHST3):c.162G>C (p.Gln54His) rs1284424702 0.00001
NM_004273.5(CHST3):c.175C>T (p.Leu59=) rs140362604 0.00001
NM_004273.5(CHST3):c.182A>G (p.Asp61Gly) rs1362350248 0.00001
NM_004273.5(CHST3):c.279T>C (p.Arg93=) rs149569616 0.00001
NM_004273.5(CHST3):c.295T>A (p.Leu99Met) rs1446955235 0.00001
NM_004273.5(CHST3):c.2T>C (p.Met1Thr) rs1238253574 0.00001
NM_004273.5(CHST3):c.311A>G (p.Glu104Gly) rs148801316 0.00001
NM_004273.5(CHST3):c.313C>G (p.Pro105Ala) rs747226832 0.00001
NM_004273.5(CHST3):c.328G>A (p.Ala110Thr) rs1163022228 0.00001
NM_004273.5(CHST3):c.340G>C (p.Glu114Gln) rs759393390 0.00001
NM_004273.5(CHST3):c.362dup (p.Glu122fs) rs1840050989 0.00001
NM_004273.5(CHST3):c.398G>A (p.Arg133His) rs767508669 0.00001
NM_004273.5(CHST3):c.466G>A (p.Gly156Ser) rs202107912 0.00001
NM_004273.5(CHST3):c.469A>G (p.Asn157Asp) rs1287115514 0.00001
NM_004273.5(CHST3):c.480C>T (p.Tyr160=) rs1840053724 0.00001
NM_004273.5(CHST3):c.486C>T (p.Phe162=) rs774188997 0.00001
NM_004273.5(CHST3):c.48C>T (p.His16=) rs574784635 0.00001
NM_004273.5(CHST3):c.492G>A (p.Pro164=) rs775338973 0.00001
NM_004273.5(CHST3):c.530G>C (p.Gly177Ala) rs1217900643 0.00001
NM_004273.5(CHST3):c.534C>T (p.Gly178=) rs992053096 0.00001
NM_004273.5(CHST3):c.538A>T (p.Asn180Tyr) rs1249561246 0.00001
NM_004273.5(CHST3):c.544G>A (p.Ala182Thr) rs745523940 0.00001
NM_004273.5(CHST3):c.549C>T (p.Gly183=) rs771814734 0.00001
NM_004273.5(CHST3):c.571G>A (p.Val191Met) rs774652828 0.00001
NM_004273.5(CHST3):c.588C>T (p.Phe196=) rs974101244 0.00001
NM_004273.5(CHST3):c.597C>A (p.Asp199Glu) rs149671252 0.00001
NM_004273.5(CHST3):c.618C>T (p.Phe206=) rs981969686 0.00001
NM_004273.5(CHST3):c.633C>G (p.Pro211=) rs565957683 0.00001
NM_004273.5(CHST3):c.661C>T (p.Arg221Cys) rs746848315 0.00001
NM_004273.5(CHST3):c.665G>A (p.Arg222Gln) rs1437776489 0.00001
NM_004273.5(CHST3):c.677G>T (p.Arg226Leu) rs1287871626 0.00001
NM_004273.5(CHST3):c.72C>T (p.Tyr24=) rs542040061 0.00001
NM_004273.5(CHST3):c.757G>A (p.Gly253Ser) rs200988207 0.00001
NM_004273.5(CHST3):c.759C>T (p.Gly253=) rs754665395 0.00001
NM_004273.5(CHST3):c.790T>C (p.Cys264Arg) rs1459673649 0.00001
NM_004273.5(CHST3):c.793C>G (p.Arg265Gly) rs760987231 0.00001
NM_004273.5(CHST3):c.795C>G (p.Arg265=) rs1840060033 0.00001
NM_004273.5(CHST3):c.840G>A (p.Leu280=) rs1341046385 0.00001
NM_004273.5(CHST3):c.845T>A (p.Phe282Tyr) rs772237363 0.00001
NM_004273.5(CHST3):c.853C>T (p.Pro285Ser) rs868146865 0.00001
NM_004273.5(CHST3):c.85G>T (p.Val29Phe) rs751067074 0.00001
NM_004273.5(CHST3):c.861C>G (p.Ala287=) rs1489540204 0.00001
NM_004273.5(CHST3):c.862G>A (p.Glu288Lys) rs903606184 0.00001
NM_004273.5(CHST3):c.869C>G (p.Pro290Arg) rs768963465 0.00001
NM_004273.5(CHST3):c.915C>A (p.Ala305=) rs1031171690 0.00001
NM_004273.5(CHST3):c.922G>T (p.Ala308Ser) rs1840062598 0.00001
NM_004273.5(CHST3):c.942C>T (p.Phe314=) rs1010927640 0.00001
NM_004273.5(CHST3):c.994G>A (p.Gly332Ser) rs971956671 0.00001
NM_004273.5(CHST3):c.1014G>T (p.Val338=)
NM_004273.5(CHST3):c.1017G>A (p.Gln339=) rs2494772449
NM_004273.5(CHST3):c.1036G>A (p.Glu346Lys) rs2494772565
NM_004273.5(CHST3):c.1042A>C (p.Ile348Leu) rs2131776087
NM_004273.5(CHST3):c.1050G>A (p.Leu350=)
NM_004273.5(CHST3):c.1053C>T (p.Ser351=)
NM_004273.5(CHST3):c.1095C>T (p.Arg365=)
NM_004273.5(CHST3):c.1109G>A (p.Arg370His) rs1355385307
NM_004273.5(CHST3):c.1109G>C (p.Arg370Pro) rs1355385307
NM_004273.5(CHST3):c.1110C>G (p.Arg370=)
NM_004273.5(CHST3):c.1128C>T (p.Arg376=) rs1052640782
NM_004273.5(CHST3):c.1143G>A (p.Lys381=) rs2131776355
NM_004273.5(CHST3):c.1150_1166del (p.Glu384fs) rs2131776376
NM_004273.5(CHST3):c.1151A>G (p.Glu384Gly) rs2494773444
NM_004273.5(CHST3):c.1165G>A (p.Ala389Thr) rs1003539672
NM_004273.5(CHST3):c.1169G>A (p.Gly390Asp) rs1035424190
NM_004273.5(CHST3):c.1177del (p.Pro392_Leu393insTer) rs2131776450
NM_004273.5(CHST3):c.1185G>A (p.Pro395=) rs1455730645
NM_004273.5(CHST3):c.1185G>T (p.Pro395=) rs1455730645
NM_004273.5(CHST3):c.1188G>A (p.Gln396=)
NM_004273.5(CHST3):c.11G>A (p.Gly4Glu) rs1840033319
NM_004273.5(CHST3):c.1204C>G (p.Gln402Glu) rs2494773776
NM_004273.5(CHST3):c.1221G>A (p.Ala407=)
NM_004273.5(CHST3):c.1224C>T (p.Ala408=)
NM_004273.5(CHST3):c.1251G>A (p.Thr417=) rs140411224
NM_004273.5(CHST3):c.1260C>T (p.Asn420=) rs749724374
NM_004273.5(CHST3):c.1263C>G (p.Ser421=) rs746386664
NM_004273.5(CHST3):c.1263C>T (p.Ser421=) rs746386664
NM_004273.5(CHST3):c.1264T>C (p.Ser422Pro) rs2494774145
NM_004273.5(CHST3):c.1266G>A (p.Ser422=) rs372291815
NM_004273.5(CHST3):c.1276G>A (p.Glu426Lys) rs1223108562
NM_004273.5(CHST3):c.1291dup (p.Ser431fs) rs1840069879
NM_004273.5(CHST3):c.1293C>T (p.Ser431=) rs2494774336
NM_004273.5(CHST3):c.1318_1327del (p.Val440fs) rs2494774502
NM_004273.5(CHST3):c.1350C>G (p.Leu450=) rs752819533
NM_004273.5(CHST3):c.1367C>A (p.Ala456Glu) rs1412814128
NM_004273.5(CHST3):c.1368G>C (p.Ala456=) rs2494774834
NM_004273.5(CHST3):c.1380C>A (p.Ala460=) rs369055984
NM_004273.5(CHST3):c.1380C>G (p.Ala460=)
NM_004273.5(CHST3):c.1380C>T (p.Ala460=) rs369055984
NM_004273.5(CHST3):c.1404C>T (p.Ser468=) rs1396587748
NM_004273.5(CHST3):c.1408C>T (p.Leu470=) rs772505441
NM_004273.5(CHST3):c.141-14C>T rs1840046453
NM_004273.5(CHST3):c.141-17C>T rs2494766762
NM_004273.5(CHST3):c.154C>G (p.Leu52Val)
NM_004273.5(CHST3):c.168C>G (p.Pro56=) rs1840047159
NM_004273.5(CHST3):c.195C>T (p.Thr65=) rs759935618
NM_004273.5(CHST3):c.196G>A (p.Asp66Asn) rs964738146
NM_004273.5(CHST3):c.19T>A (p.Leu7Met) rs2131772503
NM_004273.5(CHST3):c.201A>T (p.Pro67=) rs1321524021
NM_004273.5(CHST3):c.210C>A (p.Ile70=)
NM_004273.5(CHST3):c.222C>T (p.Asn74=)
NM_004273.5(CHST3):c.238del (p.Ser79_Leu80insTer) rs2131774158
NM_004273.5(CHST3):c.243C>T (p.Ser81=) rs1366243081
NM_004273.5(CHST3):c.249C>G (p.Leu83=)
NM_004273.5(CHST3):c.255A>T (p.Ser85=) rs766408307
NM_004273.5(CHST3):c.306C>T (p.Gly102=) rs776007496
NM_004273.5(CHST3):c.307G>A (p.Val103Met) rs201211046
NM_004273.5(CHST3):c.322G>A (p.Glu108Lys) rs772881284
NM_004273.5(CHST3):c.327C>T (p.Ala109=) rs2494767913
NM_004273.5(CHST3):c.334G>T (p.Glu112Ter) rs751470049
NM_004273.5(CHST3):c.347A>G (p.Glu116Gly) rs2131774439
NM_004273.5(CHST3):c.348G>A (p.Glu116=) rs144885813
NM_004273.5(CHST3):c.34C>T (p.Arg12Trp) rs140377563
NM_004273.5(CHST3):c.360G>A (p.Glu120=) rs2494768124
NM_004273.5(CHST3):c.363G>A (p.Glu121=)
NM_004273.5(CHST3):c.369G>A (p.Pro123=)
NM_004273.5(CHST3):c.36G>A (p.Arg12=) rs2494763731
NM_004273.5(CHST3):c.375_378dup (p.Ala127fs) rs2494768200
NM_004273.5(CHST3):c.377C>A (p.Pro126Gln) rs371091098
NM_004273.5(CHST3):c.378G>C (p.Pro126=) rs747501645
NM_004273.5(CHST3):c.378G>T (p.Pro126=) rs747501645
NM_004273.5(CHST3):c.381C>T (p.Ala127=) rs769338504
NM_004273.5(CHST3):c.382G>C (p.Val128Leu) rs563761692
NM_004273.5(CHST3):c.386C>A (p.Ala129Glu) rs147535559
NM_004273.5(CHST3):c.386C>T (p.Ala129Val) rs147535559
NM_004273.5(CHST3):c.394C>G (p.Arg132Gly) rs766145797
NM_004273.5(CHST3):c.395G>A (p.Arg132Gln) rs1339737147
NM_004273.5(CHST3):c.422C>T (p.Thr141Met) rs267606735
NM_004273.5(CHST3):c.430G>A (p.Gly144Ser) rs1360950889
NM_004273.5(CHST3):c.434C>T (p.Ser145Phe) rs780445863
NM_004273.5(CHST3):c.442G>T (p.Val148Leu) rs1387253547
NM_004273.5(CHST3):c.445G>A (p.Gly149Ser) rs930289052
NM_004273.5(CHST3):c.449A>C (p.Glu150Ala) rs1840053078
NM_004273.5(CHST3):c.458A>T (p.Asn153Ile)
NM_004273.5(CHST3):c.463C>A (p.Gln155Lys)
NM_004273.5(CHST3):c.467G>A (p.Gly156Asp) rs377025689
NM_004273.5(CHST3):c.505G>A (p.Glu169Lys) rs2494769085
NM_004273.5(CHST3):c.508C>G (p.Arg170Gly)
NM_004273.5(CHST3):c.512_513del (p.Thr171fs) rs1564532120
NM_004273.5(CHST3):c.527C>T (p.Pro176Leu) rs201963050
NM_004273.5(CHST3):c.533dup (p.Ala179fs) rs769540174
NM_004273.5(CHST3):c.535G>A (p.Ala179Thr) rs756623618
NM_004273.5(CHST3):c.54G>T (p.Leu18=) rs762099049
NM_004273.5(CHST3):c.57G>A (p.Lys19=)
NM_004273.5(CHST3):c.582G>C (p.Gln194His) rs759873741
NM_004273.5(CHST3):c.582G>T (p.Gln194His) rs759873741
NM_004273.5(CHST3):c.58_77dup (p.Leu26_Phe27insTer) rs1240422084
NM_004273.5(CHST3):c.594C>T (p.Cys198=) rs1476917552
NM_004273.5(CHST3):c.603C>T (p.Tyr201=)
NM_004273.5(CHST3):c.613C>T (p.His205Tyr) rs2494769823
NM_004273.5(CHST3):c.634G>A (p.Glu212Lys) rs371650865
NM_004273.5(CHST3):c.635A>T (p.Glu212Val) rs1840057080
NM_004273.5(CHST3):c.655A>G (p.Met219Val) rs779793827
NM_004273.5(CHST3):c.666G>A (p.Arg222=)
NM_004273.5(CHST3):c.666G>C (p.Arg222=) rs768626435
NM_004273.5(CHST3):c.672C>T (p.Ser224=)
NM_004273.5(CHST3):c.681C>G (p.Ser227=) rs1840057937
NM_004273.5(CHST3):c.685_686del (p.Cys229fs)
NM_004273.5(CHST3):c.687C>T (p.Cys229=)
NM_004273.5(CHST3):c.688G>A (p.Glu230Lys) rs774599785
NM_004273.5(CHST3):c.688G>T (p.Glu230Ter) rs774599785
NM_004273.5(CHST3):c.690G>A (p.Glu230=)
NM_004273.5(CHST3):c.697G>A (p.Val233Ile) rs1840058319
NM_004273.5(CHST3):c.6G>A (p.Glu2=)
NM_004273.5(CHST3):c.705G>C (p.Thr235=) rs2494770388
NM_004273.5(CHST3):c.718A>T (p.Lys240Ter)
NM_004273.5(CHST3):c.720G>A (p.Lys240=) rs775980360
NM_004273.5(CHST3):c.726C>A (p.Phe242Leu) rs764522356
NM_004273.5(CHST3):c.75C>T (p.Ala25=)
NM_004273.5(CHST3):c.763del (p.Leu255fs) rs1564532377
NM_004273.5(CHST3):c.773C>G (p.Thr258Arg) rs1840059581
NM_004273.5(CHST3):c.780C>T (p.Ala260=) rs1465825042
NM_004273.5(CHST3):c.812C>T (p.Ala271Val) rs1211318485
NM_004273.5(CHST3):c.813C>T (p.Ala271=)
NM_004273.5(CHST3):c.83T>A (p.Leu28Ter) rs2494763949
NM_004273.5(CHST3):c.849G>C (p.Leu283=) rs2494771230
NM_004273.5(CHST3):c.84_98dup (p.Val32_Ile33insMetValPheValVal) rs755231672
NM_004273.5(CHST3):c.855del (p.Leu286fs) rs2494771271
NM_004273.5(CHST3):c.874C>G (p.Leu292Val) rs1474879888
NM_004273.5(CHST3):c.877G>T (p.Asp293Tyr) rs2494771397
NM_004273.5(CHST3):c.901C>T (p.Arg301Cys) rs1361141661
NM_004273.5(CHST3):c.903C>G (p.Arg301=) rs1401710290
NM_004273.5(CHST3):c.906C>T (p.Asp302=) rs1325865841
NM_004273.5(CHST3):c.915C>T (p.Ala305=)
NM_004273.5(CHST3):c.916G>A (p.Val306Met) rs1564532505
NM_004273.5(CHST3):c.928C>A (p.Arg310Ser) rs1215036898
NM_004273.5(CHST3):c.929G>C (p.Arg310Pro) rs1263673104
NM_004273.5(CHST3):c.945C>T (p.Ala315=) rs1452159298
NM_004273.5(CHST3):c.960C>A (p.Thr320=)
NM_004273.5(CHST3):c.960C>G (p.Thr320=)
NM_004273.5(CHST3):c.96G>A (p.Val32=)
NM_004273.5(CHST3):c.976G>A (p.Asp326Asn) rs2494772073

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