ClinVar Miner

List of variants studied for X-linked intellectual disability with marfanoid habitus by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 189
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_080632.3(UPF3B):c.764G>A (p.Arg255Lys) rs142862074 0.00211
NM_080632.3(UPF3B):c.1121G>A (p.Arg374His) rs143538947 0.00160
NM_080632.3(UPF3B):c.1072C>T (p.Arg358Cys) rs139646537 0.00027
NM_080632.3(UPF3B):c.1201C>T (p.Arg401Trp) rs375418085 0.00016
NM_080632.3(UPF3B):c.1073G>A (p.Arg358His) rs181034787 0.00013
NM_080632.3(UPF3B):c.1118G>A (p.Arg373His) rs146785878 0.00013
NM_080632.3(UPF3B):c.1117C>T (p.Arg373Cys) rs373472438 0.00012
NM_080632.3(UPF3B):c.1136G>A (p.Arg379His) rs140032597 0.00010
NM_080632.3(UPF3B):c.1260A>G (p.Glu420=) rs777574933 0.00010
NM_080632.3(UPF3B):c.962T>C (p.Leu321Ser) rs775715153 0.00008
NM_080632.3(UPF3B):c.1101G>C (p.Lys367Asn) rs199727706 0.00007
NM_080632.3(UPF3B):c.1102C>T (p.Arg368Trp) rs374676402 0.00006
NM_080632.3(UPF3B):c.1103G>A (p.Arg368Gln) rs1282813621 0.00005
NM_080632.3(UPF3B):c.146C>T (p.Ala49Val) rs149280875 0.00005
NM_080632.3(UPF3B):c.388A>G (p.Ile130Val) rs201112408 0.00005
NM_080632.3(UPF3B):c.1048C>T (p.Arg350Trp) rs750307045 0.00004
NM_080632.3(UPF3B):c.1372A>G (p.Ser458Gly) rs367726987 0.00004
NM_080632.3(UPF3B):c.277A>G (p.Met93Val) rs770557726 0.00004
NM_080632.3(UPF3B):c.807+19T>C rs750984351 0.00004
NM_080632.3(UPF3B):c.1052A>G (p.Glu351Gly) rs757253031 0.00003
NM_080632.3(UPF3B):c.105G>A (p.Lys35=) rs143487370 0.00003
NM_080632.3(UPF3B):c.1120C>T (p.Arg374Cys) rs762578331 0.00003
NM_080632.3(UPF3B):c.15G>A (p.Lys5=) rs1377430298 0.00003
NM_080632.3(UPF3B):c.294C>T (p.Tyr98=) rs746711145 0.00003
NM_080632.3(UPF3B):c.352G>A (p.Val118Ile) rs187600102 0.00003
NM_080632.3(UPF3B):c.470-19T>C rs779967826 0.00003
NM_080632.3(UPF3B):c.53C>T (p.Thr18Ile) rs201833722 0.00003
NM_080632.3(UPF3B):c.758T>C (p.Ile253Thr) rs754982440 0.00003
NM_080632.3(UPF3B):c.883T>C (p.Leu295=) rs755087452 0.00003
NM_080632.3(UPF3B):c.1001C>T (p.Pro334Leu) rs754650766 0.00002
NM_080632.3(UPF3B):c.1035T>C (p.Tyr345=) rs756540483 0.00002
NM_080632.3(UPF3B):c.1049G>A (p.Arg350Gln) rs185347914 0.00002
NM_080632.3(UPF3B):c.1235C>T (p.Ser412Leu) rs780652469 0.00002
NM_080632.3(UPF3B):c.1302+8T>C rs776786838 0.00002
NM_080632.3(UPF3B):c.1352G>A (p.Arg451Gln) rs770359758 0.00002
NM_080632.3(UPF3B):c.370+20G>A rs753685195 0.00002
NM_080632.3(UPF3B):c.463G>A (p.Asp155Asn) rs1159050442 0.00002
NM_080632.3(UPF3B):c.659G>A (p.Arg220Lys) rs774086911 0.00002
NM_080632.3(UPF3B):c.667A>G (p.Ile223Val) rs147945173 0.00002
NM_080632.3(UPF3B):c.89C>T (p.Ser30Leu) rs1218778977 0.00002
NM_080632.3(UPF3B):c.903C>T (p.Ala301=) rs2521515163 0.00002
NM_080632.3(UPF3B):c.93G>A (p.Gly31=) rs750093901 0.00002
NM_080632.3(UPF3B):c.1024G>A (p.Gly342Ser) rs372808214 0.00001
NM_080632.3(UPF3B):c.1075A>G (p.Ile359Val) rs766422375 0.00001
NM_080632.3(UPF3B):c.1087A>G (p.Arg363Gly) rs1402767794 0.00001
NM_080632.3(UPF3B):c.108G>A (p.Gly36=) rs756792904 0.00001
NM_080632.3(UPF3B):c.1158T>C (p.Phe386=) rs2056117477 0.00001
NM_080632.3(UPF3B):c.1189A>G (p.Lys397Glu) rs898086981 0.00001
NM_080632.3(UPF3B):c.1196C>T (p.Thr399Ile) rs774746357 0.00001
NM_080632.3(UPF3B):c.1197A>G (p.Thr399=) rs769010384 0.00001
NM_080632.3(UPF3B):c.1202G>A (p.Arg401Gln) rs775993429 0.00001
NM_080632.3(UPF3B):c.1230A>G (p.Thr410=) rs2056116060 0.00001
NM_080632.3(UPF3B):c.1264_1266del (p.Lys422del) rs778553900 0.00001
NM_080632.3(UPF3B):c.1265A>G (p.Lys422Arg) rs200083156 0.00001
NM_080632.3(UPF3B):c.1302+6G>A rs752421745 0.00001
NM_080632.3(UPF3B):c.264-6C>T rs746233157 0.00001
NM_080632.3(UPF3B):c.265T>C (p.Leu89=) rs761622396 0.00001
NM_080632.3(UPF3B):c.33G>A (p.Glu11=) rs772315243 0.00001
NM_080632.3(UPF3B):c.365A>G (p.Asn122Ser) rs2056301594 0.00001
NM_080632.3(UPF3B):c.384C>T (p.Pro128=) rs762966532 0.00001
NM_080632.3(UPF3B):c.462C>T (p.Ile154=) rs1362318967 0.00001
NM_080632.3(UPF3B):c.494A>C (p.Glu165Ala) rs1233013683 0.00001
NM_080632.3(UPF3B):c.520A>G (p.Met174Val) rs2056187647 0.00001
NM_080632.3(UPF3B):c.52A>C (p.Thr18Pro) rs748622995 0.00001
NM_080632.3(UPF3B):c.625-11T>C rs2056158296 0.00001
NM_080632.3(UPF3B):c.655A>C (p.Arg219=) rs761343515 0.00001
NM_080632.3(UPF3B):c.75C>T (p.Ser25=) rs780353084 0.00001
NM_080632.3(UPF3B):c.846+19A>T rs1354213104 0.00001
NM_080632.3(UPF3B):c.846+1G>A rs373920032 0.00001
NM_080632.3(UPF3B):c.950A>G (p.Gln317Arg) rs2521514851 0.00001
NM_080632.3(UPF3B):c.981C>T (p.Ser327=) rs747520880 0.00001
NM_080632.3(UPF3B):c.982G>A (p.Glu328Lys) rs376175156 0.00001
NM_080632.3(UPF3B):c.989A>G (p.Lys330Arg) rs758853662 0.00001
NC_000023.10:g.(?_117629935)_(119761021_?)del
NC_000023.10:g.(?_118708675)_(119761021_?)dup
NC_000023.10:g.(?_118968821)_(118986911_?)dup
NM_080632.3(UPF3B):c.1007+20_1007+21del
NM_080632.3(UPF3B):c.1008-18_1008-17del rs746668894
NM_080632.3(UPF3B):c.1042A>G (p.Arg348Gly)
NM_080632.3(UPF3B):c.106G>A (p.Gly36Arg)
NM_080632.3(UPF3B):c.1104G>A (p.Arg368=) rs748924206
NM_080632.3(UPF3B):c.1154C>T (p.Thr385Ile)
NM_080632.3(UPF3B):c.1157T>C (p.Phe386Ser)
NM_080632.3(UPF3B):c.1164A>G (p.Arg388=)
NM_080632.3(UPF3B):c.1168GAA[2] (p.Glu392del) rs747700847
NM_080632.3(UPF3B):c.1255dup (p.Thr419fs) rs2521509421
NM_080632.3(UPF3B):c.1257T>C (p.Thr419=)
NM_080632.3(UPF3B):c.1281G>C (p.Lys427Asn)
NM_080632.3(UPF3B):c.1283G>C (p.Arg428Thr)
NM_080632.3(UPF3B):c.1303-19A>G rs1780498053
NM_080632.3(UPF3B):c.1317G>A (p.Met439Ile)
NM_080632.3(UPF3B):c.1340G>A (p.Arg447Gln)
NM_080632.3(UPF3B):c.1383dup (p.Gly462fs) rs1251327168
NM_080632.3(UPF3B):c.140A>C (p.Lys47Thr) rs2521581968
NM_080632.3(UPF3B):c.1440A>G (p.Gly480=) rs2521496325
NM_080632.3(UPF3B):c.145G>A (p.Ala49Thr)
NM_080632.3(UPF3B):c.156+16C>T rs2521581718
NM_080632.3(UPF3B):c.156+3G>T
NM_080632.3(UPF3B):c.157-16T>C
NM_080632.3(UPF3B):c.157-16T>G rs769285530
NM_080632.3(UPF3B):c.157-5T>C
NM_080632.3(UPF3B):c.159G>T (p.Val53=) rs2521577232
NM_080632.3(UPF3B):c.160delinsAC (p.Val54fs) rs2521577196
NM_080632.3(UPF3B):c.181A>G (p.Thr61Ala) rs1340487954
NM_080632.3(UPF3B):c.182C>G (p.Thr61Ser) rs1008317163
NM_080632.3(UPF3B):c.190A>G (p.Lys64Glu) rs2521577022
NM_080632.3(UPF3B):c.195G>A (p.Glu65=) rs1296934126
NM_080632.3(UPF3B):c.19C>T (p.His7Tyr)
NM_080632.3(UPF3B):c.224C>T (p.Pro75Leu) rs2521576737
NM_080632.3(UPF3B):c.228G>A (p.Glu76=) rs2521576710
NM_080632.3(UPF3B):c.22A>G (p.Arg8Gly)
NM_080632.3(UPF3B):c.241G>A (p.Glu81Lys) rs2521576651
NM_080632.3(UPF3B):c.261G>A (p.Thr87=) rs749039837
NM_080632.3(UPF3B):c.261G>T (p.Thr87=) rs749039837
NM_080632.3(UPF3B):c.263+10_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+11_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+12A>G rs2056306448
NM_080632.3(UPF3B):c.263+12_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+13_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+14_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+15_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+17_263+18del rs55712755
NM_080632.3(UPF3B):c.263+17_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAA rs55712755
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAA rs55712755
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAA rs55712755
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAA rs55712755
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAA rs55712755
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAA rs55712755
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAA rs55712755
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAA rs55712755
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAA rs55712755
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAAA rs55712755
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAAAAA rs55712755
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA rs55712755
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAT
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAC rs2056305443
NM_080632.3(UPF3B):c.263+18del rs55712755
NM_080632.3(UPF3B):c.263+18dup rs55712755
NM_080632.3(UPF3B):c.263+19G>A
NM_080632.3(UPF3B):c.263+19_263+20delinsAA rs2521575497
NM_080632.3(UPF3B):c.263+20G>A
NM_080632.3(UPF3B):c.263+3_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+4_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+5_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+6_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+7A>T rs2147802761
NM_080632.3(UPF3B):c.263+7_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+8_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+9_263+18dup rs55712755
NM_080632.3(UPF3B):c.30G>A (p.Lys10=) rs557005278
NM_080632.3(UPF3B):c.311A>G (p.Gln104Arg)
NM_080632.3(UPF3B):c.319A>G (p.Ile107Val) rs2521573705
NM_080632.3(UPF3B):c.332G>A (p.Arg111Lys) rs2521573623
NM_080632.3(UPF3B):c.366T>C (p.Asn122=)
NM_080632.3(UPF3B):c.370+17G>C
NM_080632.3(UPF3B):c.371-9T>C
NM_080632.3(UPF3B):c.371-9del rs767518602
NM_080632.3(UPF3B):c.371-9dup
NM_080632.3(UPF3B):c.470-17C>T
NM_080632.3(UPF3B):c.470A>G (p.Asp157Gly) rs2147790181
NM_080632.3(UPF3B):c.480T>C (p.Tyr160=)
NM_080632.3(UPF3B):c.56C>T (p.Pro19Leu) rs757733776
NM_080632.3(UPF3B):c.580+10C>A rs372146003
NM_080632.3(UPF3B):c.594C>G (p.Thr198=) rs2521528745
NM_080632.3(UPF3B):c.60C>T (p.Ala20=)
NM_080632.3(UPF3B):c.624+4A>C
NM_080632.3(UPF3B):c.625-15_625-14insGG rs1244078364
NM_080632.3(UPF3B):c.625-3T>C
NM_080632.3(UPF3B):c.625-4C>T rs2521526380
NM_080632.3(UPF3B):c.651_653del (p.Arg221del)
NM_080632.3(UPF3B):c.66C>T (p.Ala22=) rs890947408
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs) rs794727881
NM_080632.3(UPF3B):c.684_685del (p.Glu230fs) rs2147787295
NM_080632.3(UPF3B):c.711AGA[2] (p.Glu240del) rs2056156815
NM_080632.3(UPF3B):c.717A>G (p.Glu239=) rs1186773321
NM_080632.3(UPF3B):c.808-8G>A rs2521523178
NM_080632.3(UPF3B):c.80G>A (p.Gly27Asp) rs749030222
NM_080632.3(UPF3B):c.836A>G (p.Asn279Ser) rs746820880
NM_080632.3(UPF3B):c.846+18G>A
NM_080632.3(UPF3B):c.846T>A (p.Asn282Lys)
NM_080632.3(UPF3B):c.847-18A>G
NM_080632.3(UPF3B):c.847-20_847-18del rs776420262
NM_080632.3(UPF3B):c.847-7T>C rs752427509
NM_080632.3(UPF3B):c.87C>T (p.Thr29=) rs2521582299
NM_080632.3(UPF3B):c.912G>A (p.Leu304=) rs2521515093
NM_080632.3(UPF3B):c.933T>C (p.Asp311=)
NM_080632.3(UPF3B):c.937A>G (p.Arg313Gly) rs370487945
NM_080632.3(UPF3B):c.960A>C (p.Thr320=) rs2147784327

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