ClinVar Miner

List of variants studied for syndromic X-linked intellectual disability 14

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 169
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HGVS dbSNP gnomAD frequency
NM_080632.3(UPF3B):c.264-34G>A rs2428212 0.66050
NM_080632.3(UPF3B):c.764G>A (p.Arg255Lys) rs142862074 0.00211
NM_080632.3(UPF3B):c.1121G>A (p.Arg374His) rs143538947 0.00170
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.1136G>A (p.Arg379His) rs140032597 0.00011
NM_080632.3(UPF3B):c.1260A>G (p.Glu420=) rs777574933 0.00010
NM_080632.3(UPF3B):c.1302+8T>C rs776786838 0.00009
NM_080632.3(UPF3B):c.470-19T>C rs779967826 0.00009
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 0.00007
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.105G>A (p.Lys35=) rs143487370 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.1049G>A (p.Arg350Gln) rs185347914 0.00002
NM_080632.3(UPF3B):c.1202G>A (p.Arg401Gln) rs775993429 0.00002
NM_080632.3(UPF3B):c.1235C>T (p.Ser412Leu) rs780652469 0.00002
NM_080632.3(UPF3B):c.667A>G (p.Ile223Val) rs147945173 0.00002
NM_080632.3(UPF3B):c.1035T>C (p.Tyr345=) rs756540483 0.00001
NM_080632.3(UPF3B):c.1087A>G (p.Arg363Gly) rs1402767794 0.00001
NM_080632.3(UPF3B):c.1189A>G (p.Lys397Glu) rs898086981 0.00001
NM_080632.3(UPF3B):c.1302+6G>A rs752421745 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.52A>C (p.Thr18Pro) rs748622995 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.763A>G (p.Arg255Gly) rs985384811 0.00001
NM_080632.3(UPF3B):c.846+1G>A rs373920032 0.00001
NM_080632.3(UPF3B):c.982G>A (p.Glu328Lys) rs376175156 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.1008-18_1008-17del
NM_080632.3(UPF3B):c.1024G>A (p.Gly342Ser)
NM_080632.3(UPF3B):c.1048C>T (p.Arg350Trp)
NM_080632.3(UPF3B):c.1052A>G (p.Glu351Gly)
NM_080632.3(UPF3B):c.1060C>T (p.Arg354Ter) rs2056119926
NM_080632.3(UPF3B):c.1075A>G (p.Ile359Val)
NM_080632.3(UPF3B):c.108G>A (p.Gly36=)
NM_080632.3(UPF3B):c.1103G>A (p.Arg368Gln)
NM_080632.3(UPF3B):c.1117C>T (p.Arg373Cys) rs373472438
NM_080632.3(UPF3B):c.1120C>T (p.Arg374Cys)
NM_080632.3(UPF3B):c.1147G>T (p.Glu383Ter)
NM_080632.3(UPF3B):c.1158T>C (p.Phe386=) rs2056117477
NM_080632.3(UPF3B):c.1166_1167del (p.Lys389fs) rs2147783395
NM_080632.3(UPF3B):c.1168GAA[2] (p.Glu392del)
NM_080632.3(UPF3B):c.1196C>T (p.Thr399Ile)
NM_080632.3(UPF3B):c.1197A>G (p.Thr399=)
NM_080632.3(UPF3B):c.1230A>G (p.Thr410=)
NM_080632.3(UPF3B):c.1255dup (p.Thr419fs)
NM_080632.3(UPF3B):c.1264_1266del (p.Lys422del)
NM_080632.3(UPF3B):c.1265A>G (p.Lys422Arg)
NM_080632.3(UPF3B):c.1288C>T (p.Arg430Ter) rs122468181
NM_080632.3(UPF3B):c.1303-19A>G
NM_080632.3(UPF3B):c.133_135del (p.Glu45del)
NM_080632.3(UPF3B):c.1351del (p.Arg451fs) rs1556377028
NM_080632.3(UPF3B):c.1352G>A (p.Arg451Gln)
NM_080632.3(UPF3B):c.1372A>G (p.Ser458Gly)
NM_080632.3(UPF3B):c.1383dup (p.Gly462fs)
NM_080632.3(UPF3B):c.140A>C (p.Lys47Thr)
NM_080632.3(UPF3B):c.1440A>G (p.Gly480=)
NM_080632.3(UPF3B):c.146C>T (p.Ala49Val)
NM_080632.3(UPF3B):c.156+16C>T
NM_080632.3(UPF3B):c.157-16T>G rs769285530
NM_080632.3(UPF3B):c.159G>T (p.Val53=)
NM_080632.3(UPF3B):c.15G>A (p.Lys5=)
NM_080632.3(UPF3B):c.160delinsAC (p.Val54fs)
NM_080632.3(UPF3B):c.181A>G (p.Thr61Ala)
NM_080632.3(UPF3B):c.182C>G (p.Thr61Ser)
NM_080632.3(UPF3B):c.190A>G (p.Lys64Glu)
NM_080632.3(UPF3B):c.195G>A (p.Glu65=)
NM_080632.3(UPF3B):c.224C>T (p.Pro75Leu)
NM_080632.3(UPF3B):c.228G>A (p.Glu76=)
NM_080632.3(UPF3B):c.240del (p.Phe80fs)
NM_080632.3(UPF3B):c.241G>A (p.Glu81Lys)
NM_080632.3(UPF3B):c.261G>A (p.Thr87=)
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
NM_080632.3(UPF3B):c.263+15_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+17_263+18del
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
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAA rs55712755
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAA
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAA
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAAA
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA rs55712755
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAC
NM_080632.3(UPF3B):c.263+18del rs55712755
NM_080632.3(UPF3B):c.263+18dup rs55712755
NM_080632.3(UPF3B):c.263+19_263+20delinsAA
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.264-6C>T
NM_080632.3(UPF3B):c.270T>G (p.Tyr90Ter)
NM_080632.3(UPF3B):c.294C>T (p.Tyr98=)
NM_080632.3(UPF3B):c.30G>A (p.Lys10=) rs557005278
NM_080632.3(UPF3B):c.319A>G (p.Ile107Val)
NM_080632.3(UPF3B):c.332G>A (p.Arg111Lys)
NM_080632.3(UPF3B):c.365A>G (p.Asn122Ser)
NM_080632.3(UPF3B):c.370+20G>A
NM_080632.3(UPF3B):c.371-9del
NM_080632.3(UPF3B):c.384C>T (p.Pro128=)
NM_080632.3(UPF3B):c.388A>G (p.Ile130Val)
NM_080632.3(UPF3B):c.442_443del (p.Asp148fs)
NM_080632.3(UPF3B):c.462C>T (p.Ile154=)
NM_080632.3(UPF3B):c.463G>A (p.Asp155Asn)
NM_080632.3(UPF3B):c.470A>G (p.Asp157Gly) rs2147790181
NM_080632.3(UPF3B):c.478T>G (p.Tyr160Asp) rs122468182
NM_080632.3(UPF3B):c.494A>C (p.Glu165Ala)
NM_080632.3(UPF3B):c.520A>G (p.Met174Val)
NM_080632.3(UPF3B):c.56C>T (p.Pro19Leu)
NM_080632.3(UPF3B):c.575_578del (p.Glu191_Leu192insTer) rs1603371016
NM_080632.3(UPF3B):c.580+10C>A
NM_080632.3(UPF3B):c.594C>G (p.Thr198=)
NM_080632.3(UPF3B):c.625-11T>C
NM_080632.3(UPF3B):c.625-15_625-14insGG
NM_080632.3(UPF3B):c.625-4C>T
NM_080632.3(UPF3B):c.646_647del (p.Glu216fs)
NM_080632.3(UPF3B):c.659G>A (p.Arg220Lys)
NM_080632.3(UPF3B):c.66C>T (p.Ala22=) rs890947408
NM_080632.3(UPF3B):c.670G>T (p.Glu224Ter) rs2147787331
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs) rs794727881
NM_080632.3(UPF3B):c.697_698del (p.Arg233fs) rs1064794254
NM_080632.3(UPF3B):c.711AGA[2] (p.Glu240del) rs2056156815
NM_080632.3(UPF3B):c.717A>G (p.Glu239=)
NM_080632.3(UPF3B):c.808-8G>A
NM_080632.3(UPF3B):c.80G>A (p.Gly27Asp)
NM_080632.3(UPF3B):c.815G>A (p.Arg272Lys)
NM_080632.3(UPF3B):c.836A>G (p.Asn279Ser)
NM_080632.3(UPF3B):c.846+19A>T
NM_080632.3(UPF3B):c.847-20_847-18del
NM_080632.3(UPF3B):c.847-7T>C
NM_080632.3(UPF3B):c.867_868del (p.Gly290fs) rs1603370185
NM_080632.3(UPF3B):c.87C>T (p.Thr29=)
NM_080632.3(UPF3B):c.89C>T (p.Ser30Leu)
NM_080632.3(UPF3B):c.903C>T (p.Ala301=)
NM_080632.3(UPF3B):c.912G>A (p.Leu304=)
NM_080632.3(UPF3B):c.937A>G (p.Arg313Gly)
NM_080632.3(UPF3B):c.93G>A (p.Gly31=)
NM_080632.3(UPF3B):c.950A>G (p.Gln317Arg)
NM_080632.3(UPF3B):c.960A>C (p.Thr320=) rs2147784327
NM_080632.3(UPF3B):c.981C>T (p.Ser327=)
NM_080632.3(UPF3B):c.982G>T (p.Glu328Ter) rs376175156
NM_080632.3(UPF3B):c.989A>G (p.Lys330Arg)

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