ClinVar Miner

List of variants reported as uncertain significance for Spondyloepiphyseal dysplasia with congenital joint dislocations

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 262
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HGVS dbSNP gnomAD frequency
NM_004273.5(CHST3):c.*406G>A rs80210009 0.01614
NM_004273.5(CHST3):c.*346C>T rs76094341 0.00947
NM_004273.5(CHST3):c.*3306A>G rs12250549 0.00836
NM_004273.5(CHST3):c.*274C>T rs116508900 0.00804
NM_004273.5(CHST3):c.*4341C>A rs12267478 0.00688
NM_004273.5(CHST3):c.*1009C>T rs190763138 0.00583
NM_004273.5(CHST3):c.417C>T (p.Ala139=) rs144287889 0.00564
NM_004273.5(CHST3):c.1347C>T (p.Arg449=) rs200249458 0.00538
NM_004273.5(CHST3):c.*523A>G rs189173490 0.00516
NM_004273.5(CHST3):c.561G>C (p.Val187=) rs147804585 0.00480
NM_004273.5(CHST3):c.*4633G>T rs117714459 0.00456
NM_004273.5(CHST3):c.828C>T (p.Arg276=) rs140547825 0.00397
NM_004273.5(CHST3):c.*2660C>T rs143743853 0.00389
NM_004273.5(CHST3):c.*855A>C rs181471425 0.00370
NM_004273.5(CHST3):c.*1130C>G rs4148942 0.00369
NM_004273.5(CHST3):c.*856C>G rs186004202 0.00369
NM_004273.5(CHST3):c.*290G>C rs184330297 0.00296
NM_004273.5(CHST3):c.*981A>T rs573670057 0.00258
NM_004273.5(CHST3):c.*2869G>A rs556516377 0.00209
NM_004273.5(CHST3):c.*3445G>A rs185581202 0.00203
NM_004273.5(CHST3):c.*809C>T rs145689465 0.00178
NM_004273.5(CHST3):c.*4359A>G rs145151652 0.00098
NM_004273.5(CHST3):c.1197C>T (p.Asp399=) rs184636110 0.00097
NM_004273.5(CHST3):c.*3571T>C rs575592721 0.00094
NM_004273.5(CHST3):c.1251G>C (p.Thr417=) rs140411224 0.00072
NM_004273.5(CHST3):c.*4450G>C rs183731077 0.00066
NM_004273.5(CHST3):c.*469C>A rs539699501 0.00066
NM_004273.5(CHST3):c.*1762C>G rs547917558 0.00065
NM_004273.5(CHST3):c.-51G>A rs202050418 0.00053
NM_004273.5(CHST3):c.1135C>T (p.Leu379=) rs564028722 0.00049
NM_004273.5(CHST3):c.348G>T (p.Glu116Asp) rs144885813 0.00048
NM_004273.5(CHST3):c.1003G>A (p.Glu335Lys) rs150466838 0.00038
NM_004273.5(CHST3):c.*4049C>A rs192320139 0.00035
NM_004273.5(CHST3):c.*4495G>A rs730721 0.00035
NM_004273.5(CHST3):c.*4865C>T rs140500823 0.00035
NM_004273.5(CHST3):c.*2856G>A rs747937392 0.00033
NM_004273.5(CHST3):c.980A>C (p.Asp327Ala) rs573403001 0.00029
NM_004273.5(CHST3):c.*3391A>C rs564572994 0.00025
NM_004273.5(CHST3):c.*4162A>G rs551591119 0.00025
NM_004273.5(CHST3):c.*1463G>T rs529839491 0.00021
NM_004273.5(CHST3):c.*3022A>T rs145507314 0.00021
NM_004273.5(CHST3):c.*4884C>G rs886047185 0.00021
NM_004273.5(CHST3):c.*3565A>G rs151095465 0.00019
NM_004273.5(CHST3):c.*4534G>A rs372116465 0.00019
NM_004273.5(CHST3):c.*1726C>T rs573032793 0.00018
NM_004273.5(CHST3):c.*3272C>T rs539580815 0.00017
NM_004273.5(CHST3):c.*1664G>C rs375960396 0.00016
NM_004273.5(CHST3):c.*2843_*2844del rs886047178 0.00016
NM_004273.5(CHST3):c.*3131G>A rs577353046 0.00016
NM_004273.5(CHST3):c.*4869G>A rs773240688 0.00016
NM_004273.5(CHST3):c.*1811C>T rs894415519 0.00014
NM_004273.5(CHST3):c.570C>T (p.Asp190=) rs367857089 0.00013
NM_004273.5(CHST3):c.*3040G>A rs550027128 0.00012
NM_004273.5(CHST3):c.1324G>A (p.Ala442Thr) rs776562348 0.00011
NM_004273.5(CHST3):c.423G>A (p.Thr141=) rs376107245 0.00011
NM_004273.5(CHST3):c.*4498A>G rs552578786 0.00010
NM_004273.5(CHST3):c.518C>T (p.Ser173Phe) rs751961615 0.00010
NM_004273.5(CHST3):c.*4336A>G rs569758444 0.00009
NM_004273.5(CHST3):c.*4409C>T rs754282055 0.00009
NM_004273.5(CHST3):c.1044C>G (p.Ile348Met) rs3740128 0.00009
NM_004273.5(CHST3):c.-98G>A rs539958310 0.00008
NM_004273.5(CHST3):c.*1091G>T rs886047167 0.00007
NM_004273.5(CHST3):c.-265C>G rs371903365 0.00007
NM_004273.5(CHST3):c.*1042C>G rs886047165 0.00006
NM_004273.5(CHST3):c.*1385T>C rs757821498 0.00006
NM_004273.5(CHST3):c.*2830G>A rs940040640 0.00006
NM_004273.5(CHST3):c.*3857G>A rs537395654 0.00006
NM_004273.5(CHST3):c.*4556A>G rs745789120 0.00006
NM_004273.5(CHST3):c.*887A>G rs555113303 0.00006
NM_004273.5(CHST3):c.269T>C (p.Leu90Pro) rs138203946 0.00006
NM_004273.5(CHST3):c.*1621C>G rs768478124 0.00005
NM_004273.5(CHST3):c.-131G>A rs886047158 0.00005
NM_004273.5(CHST3):c.276C>A (p.Ser92Arg) rs777858428 0.00005
NM_004273.5(CHST3):c.*2728C>T rs1282105404 0.00004
NM_004273.5(CHST3):c.*2895G>A rs1000522642 0.00004
NM_004273.5(CHST3):c.*3811C>T rs989263395 0.00004
NM_004273.5(CHST3):c.*3905C>T rs886047181 0.00004
NM_004273.5(CHST3):c.*4156A>T rs774773819 0.00004
NM_004273.5(CHST3):c.475T>A (p.Phe159Ile) rs145538723 0.00004
NM_004273.5(CHST3):c.540C>T (p.Asn180=) rs748812857 0.00004
NM_004273.5(CHST3):c.*1698C>G rs377338550 0.00003
NM_004273.5(CHST3):c.*2535C>T rs746330162 0.00003
NM_004273.5(CHST3):c.*3245G>A rs545967470 0.00003
NM_004273.5(CHST3):c.*410C>T rs886047160 0.00003
NM_004273.5(CHST3):c.*4523A>G rs1280459396 0.00003
NM_004273.5(CHST3):c.*4821G>A rs886047184 0.00003
NM_004273.5(CHST3):c.*812G>A rs886047162 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.320T>A (p.Met107Lys) rs765024887 0.00003
NM_004273.5(CHST3):c.7A>G (p.Lys3Glu) rs199515173 0.00003
NM_004273.5(CHST3):c.*1053A>T rs886047166 0.00002
NM_004273.5(CHST3):c.*2845G>C rs932565615 0.00002
NM_004273.5(CHST3):c.*4210T>C rs559945769 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.1414G>A (p.Glu472Lys) rs779698260 0.00002
NM_004273.5(CHST3):c.334G>A (p.Glu112Lys) rs751470049 0.00002
NM_004273.5(CHST3):c.*1244G>T rs886047168 0.00001
NM_004273.5(CHST3):c.*1256G>A rs886047169 0.00001
NM_004273.5(CHST3):c.*1496C>A rs538070743 0.00001
NM_004273.5(CHST3):c.*1536G>A rs376062544 0.00001
NM_004273.5(CHST3):c.*1960G>A rs886047172 0.00001
NM_004273.5(CHST3):c.*2226A>G rs886047175 0.00001
NM_004273.5(CHST3):c.*2257G>A rs758665372 0.00001
NM_004273.5(CHST3):c.*2592C>T rs886047176 0.00001
NM_004273.5(CHST3):c.*3340A>G rs1018806913 0.00001
NM_004273.5(CHST3):c.*4628A>C rs886047182 0.00001
NM_004273.5(CHST3):c.*5026C>T rs1840133812 0.00001
NM_004273.5(CHST3):c.*544C>T rs886047161 0.00001
NM_004273.5(CHST3):c.*851T>C rs886047163 0.00001
NM_004273.5(CHST3):c.-300C>G rs1469041878 0.00001
NM_004273.5(CHST3):c.1031A>G (p.Asn344Ser) rs777739643 0.00001
NM_004273.5(CHST3):c.1327G>A (p.Ala443Thr) rs764953708 0.00001
NM_004273.5(CHST3):c.182A>G (p.Asp61Gly) rs1362350248 0.00001
NM_004273.5(CHST3):c.202G>A (p.Ala68Thr) rs142556853 0.00001
NM_004273.5(CHST3):c.295T>A (p.Leu99Met) rs1446955235 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.340G>C (p.Glu114Gln) rs759393390 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.538A>T (p.Asn180Tyr) rs1249561246 0.00001
NM_004273.5(CHST3):c.543C>T (p.Ala181=) rs778478785 0.00001
NM_004273.5(CHST3):c.544G>A (p.Ala182Thr) rs745523940 0.00001
NM_004273.5(CHST3):c.655A>G (p.Met219Val) rs779793827 0.00001
NM_004273.5(CHST3):c.665G>A (p.Arg222Gln) rs1437776489 0.00001
NM_004273.5(CHST3):c.757G>A (p.Gly253Ser) rs200988207 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.853C>T (p.Pro285Ser) rs868146865 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.922G>T (p.Ala308Ser) rs1840062598 0.00001
NM_004273.5(CHST3):c.994G>A (p.Gly332Ser) rs971956671 0.00001
NM_004273.5(CHST3):c.*1088A>G rs115617050
NM_004273.5(CHST3):c.*1088A>T rs115617050
NM_004273.5(CHST3):c.*1090G>A rs148125052
NM_004273.5(CHST3):c.*1184C>G rs187692473
NM_004273.5(CHST3):c.*1185C>G rs373515105
NM_004273.5(CHST3):c.*1212C>G rs866928391
NM_004273.5(CHST3):c.*1399T>C rs562405951
NM_004273.5(CHST3):c.*1404C>G rs886047170
NM_004273.5(CHST3):c.*1453G>A rs1840091934
NM_004273.5(CHST3):c.*1584T>G rs886047171
NM_004273.5(CHST3):c.*1608C>T rs1840094081
NM_004273.5(CHST3):c.*2178G>T rs886047174
NM_004273.5(CHST3):c.*2352G>T rs544408735
NM_004273.5(CHST3):c.*238G>A rs543236876
NM_004273.5(CHST3):c.*2484A>G rs1840104088
NM_004273.5(CHST3):c.*2656A>G rs886047177
NM_004273.5(CHST3):c.*2717C>T rs555301573
NM_004273.5(CHST3):c.*2810C>A rs1840107728
NM_004273.5(CHST3):c.*3167G>A rs886047179
NM_004273.5(CHST3):c.*3384G>A rs886047180
NM_004273.5(CHST3):c.*3542A>G rs1840115763
NM_004273.5(CHST3):c.*3633C>T rs1840116651
NM_004273.5(CHST3):c.*3706G>A rs1471803578
NM_004273.5(CHST3):c.*3877A>G rs1840120030
NM_004273.5(CHST3):c.*3961T>C rs1840121287
NM_004273.5(CHST3):c.*4108G>A rs1840122795
NM_004273.5(CHST3):c.*4265T>G rs1840124387
NM_004273.5(CHST3):c.*4580G>A rs1237981753
NM_004273.5(CHST3):c.*4609G>A rs552018988
NM_004273.5(CHST3):c.*4820C>T rs886047183
NM_004273.5(CHST3):c.*4886G>C rs761110067
NM_004273.5(CHST3):c.*57G>T rs760264135
NM_004273.5(CHST3):c.*66G>T rs55939908
NM_004273.5(CHST3):c.*710G>T rs190298233
NM_004273.5(CHST3):c.*786G>C rs906037991
NM_004273.5(CHST3):c.*900C>T rs1840084420
NM_004273.5(CHST3):c.*922C>T rs886047164
NM_004273.5(CHST3):c.*969A>C rs571247438
NM_004273.5(CHST3):c.-108+6T>G rs886047159
NM_004273.5(CHST3):c.-164C>T rs1335747560
NM_004273.5(CHST3):c.100G>A (p.Val34Ile)
NM_004273.5(CHST3):c.1036G>A (p.Glu346Lys)
NM_004273.5(CHST3):c.1042A>C (p.Ile348Leu) rs2131776087
NM_004273.5(CHST3):c.1052C>A (p.Ser351Tyr) rs1057520111
NM_004273.5(CHST3):c.1058A>C (p.Glu353Ala) rs2131776149
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.1151A>G (p.Glu384Gly)
NM_004273.5(CHST3):c.1165G>A (p.Ala389Thr)
NM_004273.5(CHST3):c.1169G>A (p.Gly390Asp)
NM_004273.5(CHST3):c.11G>A (p.Gly4Glu) rs1840033319
NM_004273.5(CHST3):c.1204C>G (p.Gln402Glu)
NM_004273.5(CHST3):c.1264T>C (p.Ser422Pro)
NM_004273.5(CHST3):c.1276G>A (p.Glu426Lys) rs1223108562
NM_004273.5(CHST3):c.1304A>G (p.Lys435Arg)
NM_004273.5(CHST3):c.1318_1327del (p.Val440fs)
NM_004273.5(CHST3):c.1367C>A (p.Ala456Glu)
NM_004273.5(CHST3):c.1380C>A (p.Ala460=) rs369055984
NM_004273.5(CHST3):c.1394G>A (p.Arg465His) rs569940449
NM_004273.5(CHST3):c.1420G>A (p.Gly474Ser)
NM_004273.5(CHST3):c.162G>C (p.Gln54His)
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.268C>T (p.Leu90Phe)
NM_004273.5(CHST3):c.296T>C (p.Leu99Ser)
NM_004273.5(CHST3):c.2T>C (p.Met1Thr)
NM_004273.5(CHST3):c.306C>T (p.Gly102=) rs776007496
NM_004273.5(CHST3):c.307G>A (p.Val103Met)
NM_004273.5(CHST3):c.316G>A (p.Ala106Thr)
NM_004273.5(CHST3):c.322G>A (p.Glu108Lys)
NM_004273.5(CHST3):c.328G>A (p.Ala110Thr)
NM_004273.5(CHST3):c.347A>G (p.Glu116Gly) rs2131774439
NM_004273.5(CHST3):c.34C>T (p.Arg12Trp)
NM_004273.5(CHST3):c.368C>T (p.Pro123Leu)
NM_004273.5(CHST3):c.377C>A (p.Pro126Gln) rs371091098
NM_004273.5(CHST3):c.377C>T (p.Pro126Leu)
NM_004273.5(CHST3):c.37G>A (p.Asp13Asn)
NM_004273.5(CHST3):c.386C>A (p.Ala129Glu)
NM_004273.5(CHST3):c.386C>T (p.Ala129Val)
NM_004273.5(CHST3):c.394C>G (p.Arg132Gly) rs766145797
NM_004273.5(CHST3):c.395G>A (p.Arg132Gln)
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)
NM_004273.5(CHST3):c.442G>T (p.Val148Leu)
NM_004273.5(CHST3):c.445G>A (p.Gly149Ser)
NM_004273.5(CHST3):c.449A>C (p.Glu150Ala) rs1840053078
NM_004273.5(CHST3):c.467G>A (p.Gly156Asp)
NM_004273.5(CHST3):c.469A>G (p.Asn157Asp)
NM_004273.5(CHST3):c.505G>A (p.Glu169Lys)
NM_004273.5(CHST3):c.512_513del (p.Thr171fs) rs1564532120
NM_004273.5(CHST3):c.527C>T (p.Pro176Leu)
NM_004273.5(CHST3):c.530G>C (p.Gly177Ala)
NM_004273.5(CHST3):c.535G>A (p.Ala179Thr)
NM_004273.5(CHST3):c.571G>A (p.Val191Met) rs774652828
NM_004273.5(CHST3):c.582G>C (p.Gln194His)
NM_004273.5(CHST3):c.582G>T (p.Gln194His) rs759873741
NM_004273.5(CHST3):c.597C>A (p.Asp199Glu)
NM_004273.5(CHST3):c.613C>T (p.His205Tyr)
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.677G>T (p.Arg226Leu) rs1287871626
NM_004273.5(CHST3):c.680C>G (p.Ser227Cys) rs1554817549
NM_004273.5(CHST3):c.688G>A (p.Glu230Lys) rs774599785
NM_004273.5(CHST3):c.697G>A (p.Val233Ile)
NM_004273.5(CHST3):c.726C>A (p.Phe242Leu) rs764522356
NM_004273.5(CHST3):c.773C>G (p.Thr258Arg) rs1840059581
NM_004273.5(CHST3):c.791G>A (p.Cys264Tyr)
NM_004273.5(CHST3):c.7A>C (p.Lys3Gln) rs199515173
NM_004273.5(CHST3):c.808dup (p.Met270fs)
NM_004273.5(CHST3):c.812C>T (p.Ala271Val)
NM_004273.5(CHST3):c.845T>A (p.Phe282Tyr)
NM_004273.5(CHST3):c.84_98dup (p.Val32_Ile33insMetValPheValVal)
NM_004273.5(CHST3):c.85G>T (p.Val29Phe) rs751067074
NM_004273.5(CHST3):c.874C>G (p.Leu292Val) rs1474879888
NM_004273.5(CHST3):c.877G>T (p.Asp293Tyr)
NM_004273.5(CHST3):c.886G>C (p.Val296Leu) rs762224143
NM_004273.5(CHST3):c.901C>T (p.Arg301Cys)
NM_004273.5(CHST3):c.911G>A (p.Arg304Gln) rs28937593
NM_004273.5(CHST3):c.916G>A (p.Val306Met) rs1564532505
NM_004273.5(CHST3):c.928C>A (p.Arg310Ser)
NM_004273.5(CHST3):c.929G>C (p.Arg310Pro)
NM_004273.5(CHST3):c.947del (p.Gly316fs)
NM_004273.5(CHST3):c.976G>A (p.Asp326Asn)

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