ClinVar Miner

List of variants reported as pathogenic for Exostoses, multiple, type 2

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ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter) rs765648513 0.00004
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter) rs772690312 0.00002
NM_207122.2(EXT2):c.1824T>A (p.Tyr608Ter) rs781083252 0.00001
NM_207122.2(EXT2):c.67C>T (p.Arg23Ter) rs754533434 0.00001
NM_207122.2(EXT2):c.863A>G (p.Asn288Ser) rs745738318 0.00001
NC_000011.10:g.(?_44096233)_(44130158_?)del
NC_000011.10:g.(?_44096233)_(44244388_?)del
NC_000011.10:g.(?_44107663)_(44108268_?)del
NC_000011.10:g.(?_44107663)_(44130158_?)del
NC_000011.10:g.(?_44124769)_(44126975_?)del
NC_000011.10:g.(?_44144227)_(44198038_?)del
NC_000011.10:g.(?_44171591)_(44171762_?)del
NC_000011.10:g.(?_44171591)_(44206979_?)del
NC_000011.10:g.(?_44206773)_(44206979_?)del
NC_000011.10:g.(?_44206793)_(44206959_?)del
NC_000011.10:g.44109194del
NC_000011.9:g.(?_44129235)_(44129808_?)del
NC_000011.9:g.(?_44129235)_(44151698_?)del
NC_000011.9:g.(?_44129263)_(44130853_?)del
NC_000011.9:g.(?_44135715)_(44135871_?)del
NC_000011.9:g.(?_44146456)_(44156975_?)del
NM_207122.1(EXT2):c.861_1173+5287del
NM_207122.2(EXT2):c.1003_1004insA (p.Leu335fs) rs2135020617
NM_207122.2(EXT2):c.1006C>T (p.Gln336Ter) rs1954414269
NM_207122.2(EXT2):c.1013del (p.Gly338fs) rs2135020654
NM_207122.2(EXT2):c.1016G>A (p.Cys339Tyr) rs751598619
NM_207122.2(EXT2):c.1024del (p.Val342fs) rs1954415156
NM_207122.2(EXT2):c.1032del (p.Ile344fs) rs1590570953
NM_207122.2(EXT2):c.1044T>A (p.Tyr348Ter)
NM_207122.2(EXT2):c.1052C>T (p.Pro351Leu) rs1954415964
NM_207122.2(EXT2):c.1074G>A (p.Trp358Ter) rs1450980907
NM_207122.2(EXT2):c.1079+1G>A rs1369420640
NM_207122.2(EXT2):c.1079+1G>C rs1369420640
NM_207122.2(EXT2):c.1079+1G>T rs1369420640
NM_207122.2(EXT2):c.1080-1G>A rs2135029007
NM_207122.2(EXT2):c.1080-1G>T rs2135029007
NM_207122.2(EXT2):c.1080-2A>G rs558968332
NM_207122.2(EXT2):c.1080-2del rs2135029005
NM_207122.2(EXT2):c.1102G>T (p.Glu368Ter)
NM_207122.2(EXT2):c.1104_1108del (p.Glu368fs)
NM_207122.2(EXT2):c.1124_1125del (p.Ser375fs) rs1954470017
NM_207122.2(EXT2):c.1132C>T (p.Gln378Ter) rs1555006433
NM_207122.2(EXT2):c.1144C>T (p.Gln382Ter) rs1954470670
NM_207122.2(EXT2):c.1144del (p.Gln382fs)
NM_207122.2(EXT2):c.1150C>T (p.Gln384Ter) rs753083913
NM_207122.2(EXT2):c.1169_1170del (p.Arg390fs) rs1954471038
NM_207122.2(EXT2):c.1171C>T (p.Gln391Ter) rs570580540
NM_207122.2(EXT2):c.1172_1173dup (p.Ala392fs)
NM_207122.2(EXT2):c.1173+1G>A
NM_207122.2(EXT2):c.1173+2T>A rs1565205890
NM_207122.2(EXT2):c.1174-2A>G
NM_207122.2(EXT2):c.1179del (p.Trp394fs) rs1955074882
NM_207122.2(EXT2):c.1181G>A (p.Trp394Ter) rs1191238988
NM_207122.2(EXT2):c.1186_1192del (p.Trp396fs)
NM_207122.2(EXT2):c.1187G>A (p.Trp396Ter) rs750542485
NM_207122.2(EXT2):c.1189dup (p.Glu397fs) rs1590618771
NM_207122.2(EXT2):c.118dup (p.Thr40fs)
NM_207122.2(EXT2):c.1197C>G (p.Tyr399Ter)
NM_207122.2(EXT2):c.1201C>T (p.Gln401Ter)
NM_207122.2(EXT2):c.1201del (p.Gln401fs) rs2135127698
NM_207122.2(EXT2):c.1205C>A (p.Ser402Ter) rs1955075568
NM_207122.2(EXT2):c.1234C>T (p.Gln412Ter) rs1448103584
NM_207122.2(EXT2):c.1245del (p.Asn415fs)
NM_207122.2(EXT2):c.1257T>A (p.Tyr419Ter) rs1955076595
NM_207122.2(EXT2):c.1262_1263dup (p.Ala422fs) rs1590618958
NM_207122.2(EXT2):c.1286G>A (p.Trp429Ter) rs2135128105
NM_207122.2(EXT2):c.1287G>A (p.Trp429Ter) rs1403873034
NM_207122.2(EXT2):c.129_130delinsGT (p.Phe43_Gln44delinsLeuTer) rs1954079044
NM_207122.2(EXT2):c.1305+1G>A rs864309637
NM_207122.2(EXT2):c.1484del (p.Asn495fs)
NM_207122.2(EXT2):c.1577dup (p.Tyr526Ter) rs2135204843
NM_207122.2(EXT2):c.1627dup (p.Met543fs) rs1590647371
NM_207122.2(EXT2):c.1698C>A (p.Tyr566Ter)
NM_207122.2(EXT2):c.1731dup (p.Asn578fs)
NM_207122.2(EXT2):c.1740G>A (p.Trp580Ter) rs1564986609
NM_207122.2(EXT2):c.176del (p.Glu59fs)
NM_207122.2(EXT2):c.1785_1803del (p.Gly596fs)
NM_207122.2(EXT2):c.1812del (p.Phe604fs)
NM_207122.2(EXT2):c.1930del (p.Ile644fs)
NM_207122.2(EXT2):c.203_258del (p.Val68fs) rs1954081053
NM_207122.2(EXT2):c.211del (p.Leu71fs) rs1954081372
NM_207122.2(EXT2):c.244del (p.Asp82fs) rs1555002457
NM_207122.2(EXT2):c.244dup (p.Asp82fs) rs1555002457
NM_207122.2(EXT2):c.245dup (p.Asp82fs) rs1555002460
NM_207122.2(EXT2):c.248_249del (p.Leu83fs)
NM_207122.2(EXT2):c.257_263del (p.Arg86fs) rs1954082764
NM_207122.2(EXT2):c.264_275delinsAC (p.His88fs)
NM_207122.2(EXT2):c.282T>A (p.Tyr94Ter) rs2134967046
NM_207122.2(EXT2):c.314del (p.Lys105fs) rs1954084273
NM_207122.2(EXT2):c.315_316dup (p.Val106fs)
NM_207122.2(EXT2):c.316del (p.Val106fs)
NM_207122.2(EXT2):c.321T>A (p.Tyr107Ter) rs767802942
NM_207122.2(EXT2):c.362_363del (p.Ser121fs) rs1565196489
NM_207122.2(EXT2):c.383_390del (p.Arg128fs)
NM_207122.2(EXT2):c.394G>T (p.Glu132Ter) rs1954086080
NM_207122.2(EXT2):c.398_401dup (p.Met135fs) rs886041272
NM_207122.2(EXT2):c.398_402del (p.Leu133fs) rs2134967717
NM_207122.2(EXT2):c.413C>G (p.Ser138Ter)
NM_207122.2(EXT2):c.426C>G (p.Tyr142Ter) rs569199683
NM_207122.2(EXT2):c.429C>A (p.Tyr143Ter) rs1555002543
NM_207122.2(EXT2):c.454_457del (p.Val154fs) rs864309636
NM_207122.2(EXT2):c.459_462del (p.Val154fs) rs1954088614
NM_207122.2(EXT2):c.471_474del (p.Ile157fs)
NM_207122.2(EXT2):c.477_478insATTAACCAGAACACACTGCG (p.Leu160fs)
NM_207122.2(EXT2):c.481_482dup (p.Asn161fs) rs1590548336
NM_207122.2(EXT2):c.482del (p.Asn161fs) rs1590548336
NM_207122.2(EXT2):c.514C>T (p.Gln172Ter) rs121918279
NM_207122.2(EXT2):c.516del (p.Ala173fs) rs2134968744
NM_207122.2(EXT2):c.535del (p.Arg179fs)
NM_207122.2(EXT2):c.536+1G>A rs1954091762
NM_207122.2(EXT2):c.536+1G>C rs1954091762
NM_207122.2(EXT2):c.536+1G>T
NM_207122.2(EXT2):c.537-1G>C
NM_207122.2(EXT2):c.537-4_561del rs2134971478
NM_207122.2(EXT2):c.539G>A (p.Trp180Ter) rs886039565
NM_207122.2(EXT2):c.540G>A (p.Trp180Ter) rs2134971524
NM_207122.2(EXT2):c.544C>T (p.Arg182Ter) rs886039358
NM_207122.2(EXT2):c.590del (p.Pro197fs) rs1565197245
NM_207122.2(EXT2):c.602_603del (p.Thr201fs) rs1954107890
NM_207122.2(EXT2):c.610del (p.Asp204fs)
NM_207122.2(EXT2):c.620_626+158del rs2134971964
NM_207122.2(EXT2):c.626+1G>A rs1057521132
NM_207122.2(EXT2):c.626+1G>T rs1057521132
NM_207122.2(EXT2):c.626+2T>G rs1954108778
NM_207122.2(EXT2):c.626+2_626+5del rs1954108641
NM_207122.2(EXT2):c.627-1G>A
NM_207122.2(EXT2):c.627-2A>G rs1064793854
NM_207122.2(EXT2):c.64_68del (p.His22fs) rs2134965356
NM_207122.2(EXT2):c.659G>A (p.Trp220Ter)
NM_207122.2(EXT2):c.666C>A (p.Tyr222Ter)
NM_207122.2(EXT2):c.666C>G (p.Tyr222Ter) rs121918281
NM_207122.2(EXT2):c.668G>C (p.Arg223Pro) rs764379119
NM_207122.2(EXT2):c.670C>T (p.Gln224Ter) rs1565199251
NM_207122.2(EXT2):c.678C>A (p.Tyr226Ter)
NM_207122.2(EXT2):c.679G>A (p.Asp227Asn) rs121918280
NM_207122.2(EXT2):c.680A>G (p.Asp227Gly) rs2134984829
NM_207122.2(EXT2):c.699T>G (p.Tyr233Ter) rs1319747883
NM_207122.2(EXT2):c.705_706del (p.Leu236fs) rs2134985142
NM_207122.2(EXT2):c.728del (p.Pro243fs) rs2134985434
NM_207122.2(EXT2):c.729del (p.Glu244fs) rs2134985455
NM_207122.2(EXT2):c.735del (p.Gly246fs)
NM_207122.2(EXT2):c.743+1G>A rs886039567
NM_207122.2(EXT2):c.743+1_743+2dup rs1590555709
NM_207122.2(EXT2):c.744-1G>A rs1954372994
NM_207122.2(EXT2):c.744-2A>C rs864309638
NM_207122.2(EXT2):c.750del (p.Gln251fs) rs2135014654
NM_207122.2(EXT2):c.756C>A (p.Tyr252Ter) rs1954373394
NM_207122.2(EXT2):c.756C>G (p.Tyr252Ter)
NM_207122.2(EXT2):c.772C>T (p.Gln258Ter) rs267606786
NM_207122.2(EXT2):c.779del (p.Gly260fs) rs1410604006
NM_207122.2(EXT2):c.782_783del (p.Leu261fs) rs1954374127
NM_207122.2(EXT2):c.783_784del (p.His262fs) rs2135014852
NM_207122.2(EXT2):c.785dup (p.His262fs) rs1555005328
NM_207122.2(EXT2):c.817C>T (p.Gln273Ter) rs1954375189
NM_207122.2(EXT2):c.82_143del (p.Thr28fs)
NM_207122.2(EXT2):c.835_839dup (p.Leu281fs)
NM_207122.2(EXT2):c.859del (p.Thr287fs)
NM_207122.2(EXT2):c.865dup (p.Leu289fs)
NM_207122.2(EXT2):c.869C>A (p.Ser290Ter)
NM_207122.2(EXT2):c.870del (p.Glu291fs)
NM_207122.2(EXT2):c.871G>T (p.Glu291Ter)
NM_207122.2(EXT2):c.87_88del (p.Phe30fs) rs886039744
NM_207122.2(EXT2):c.89del (p.Phe30fs) rs2134965481
NM_207122.2(EXT2):c.906_907dup (p.His303fs) rs886041199
NM_207122.2(EXT2):c.913del (p.Val305fs) rs1954378294
NM_207122.2(EXT2):c.928C>T (p.Gln310Ter) rs1555005398
NM_207122.2(EXT2):c.937C>T (p.Gln313Ter) rs763718818
NM_207122.2(EXT2):c.939+1G>T
NM_207122.2(EXT2):c.939+1del rs2135015765
NM_207122.2(EXT2):c.940-2A>G rs1954411419
NM_207122.2(EXT2):c.952T>C (p.Cys318Arg) rs2135020224
NM_207122.2(EXT2):c.952_964del (p.Cys318fs) rs1954411719
NM_207122.2(EXT2):c.956_957del (p.Val319fs) rs1590570665
NM_207122.2(EXT2):c.960del (p.Leu321fs) rs1954412043

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