ClinVar Miner

List of variants studied for Telangiectasia, hereditary hemorrhagic, type 5

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Total variants: 178
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HGVS dbSNP gnomAD frequency
NM_016204.4(GDF2):c.911C>T (p.Thr304Met) rs75024165 0.00530
NM_016204.4(GDF2):c.352A>T (p.Ile118Phe) rs144456901 0.00113
NM_016204.4(GDF2):c.652G>A (p.Asp218Asn) rs142402214 0.00096
NM_016204.4(GDF2):c.346+10C>T rs117345807 0.00081
NM_016204.4(GDF2):c.1017C>T (p.Ile339=) rs148730910 0.00078
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser) rs201711410 0.00045
NM_016204.4(GDF2):c.34C>T (p.Leu12=) rs61758973 0.00040
NM_016204.4(GDF2):c.917G>A (p.Gly306Asp) rs145635235 0.00038
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser) rs140271276 0.00031
NM_016204.4(GDF2):c.615G>A (p.Leu205=) rs141350776 0.00029
NM_016204.4(GDF2):c.221G>A (p.Gly74Glu) rs151296940 0.00024
NM_016204.4(GDF2):c.1290G>A (p.Ter430=) rs139568056 0.00021
NM_016204.4(GDF2):c.315G>A (p.Ala105=) rs145198623 0.00018
NM_016204.4(GDF2):c.712G>A (p.Asp238Asn) rs137873272 0.00014
NM_016204.4(GDF2):c.244A>G (p.Arg82Gly) rs559902146 0.00011
NM_016204.4(GDF2):c.378C>A (p.Phe126Leu) rs180821007 0.00010
NM_016204.4(GDF2):c.711C>T (p.Cys237=) rs146775536 0.00009
NM_016204.4(GDF2):c.774C>T (p.Ser258=) rs202125220 0.00009
NM_016204.4(GDF2):c.930G>A (p.Ala310=) rs200838331 0.00009
NM_016204.4(GDF2):c.1112C>T (p.Thr371Met) rs782198119 0.00008
NM_016204.4(GDF2):c.1207G>A (p.Val403Ile) rs367957332 0.00008
NM_016204.4(GDF2):c.903G>A (p.Glu301=) rs199937159 0.00008
NM_016204.4(GDF2):c.847G>A (p.Val283Met) rs138904328 0.00007
NM_016204.4(GDF2):c.933G>A (p.Gly311=) rs375969347 0.00007
NM_016204.4(GDF2):c.654C>T (p.Asp218=) rs782545137 0.00006
NM_016204.4(GDF2):c.861G>C (p.Leu287=) rs1189713032 0.00006
NM_016204.4(GDF2):c.901G>A (p.Glu301Lys) rs41314469 0.00006
NM_016204.4(GDF2):c.203G>A (p.Arg68His) rs200330818 0.00005
NM_016204.4(GDF2):c.231G>A (p.Ser77=) rs782105568 0.00005
NM_016204.4(GDF2):c.478G>A (p.Val160Met) rs144705412 0.00004
NM_016204.4(GDF2):c.716C>T (p.Thr239Met) rs782560993 0.00004
NM_016204.4(GDF2):c.73C>T (p.Leu25=) rs200760960 0.00004
NM_016204.4(GDF2):c.750C>A (p.Asn250Lys) rs782092613 0.00004
NM_016204.4(GDF2):c.1008C>T (p.Phe336=) rs1041318325 0.00003
NM_016204.4(GDF2):c.1110G>A (p.Pro370=) rs534378338 0.00003
NM_016204.4(GDF2):c.484C>A (p.Pro162Thr) rs139154868 0.00003
NM_016204.4(GDF2):c.646C>T (p.Arg216Trp) rs556004917 0.00003
NM_016204.4(GDF2):c.717G>A (p.Thr239=) rs781821989 0.00003
NM_016204.4(GDF2):c.732C>T (p.Val244=) rs145385373 0.00003
NM_016204.4(GDF2):c.76C>T (p.Gln26Ter) rs1555208696 0.00003
NM_016204.4(GDF2):c.1075G>A (p.Gly359Ser) rs1272846013 0.00002
NM_016204.4(GDF2):c.1254C>T (p.Tyr418=) rs782759852 0.00002
NM_016204.4(GDF2):c.326T>C (p.Val109Ala) rs782118500 0.00002
NM_016204.4(GDF2):c.619G>T (p.Val207Leu) rs148262680 0.00002
NM_016204.4(GDF2):c.627C>T (p.Ser209=) rs374479283 0.00002
NM_016204.4(GDF2):c.1040C>T (p.Ala347Val) rs782452633 0.00001
NM_016204.4(GDF2):c.1051T>C (p.Tyr351His) rs1486994359 0.00001
NM_016204.4(GDF2):c.1068T>C (p.Cys356=) rs781876898 0.00001
NM_016204.4(GDF2):c.1098C>T (p.Asp366=) rs781981224 0.00001
NM_016204.4(GDF2):c.1104G>A (p.Val368=) rs782031068 0.00001
NM_016204.4(GDF2):c.1125C>A (p.Ile375=) rs782554928 0.00001
NM_016204.4(GDF2):c.1255G>A (p.Glu419Lys) rs782137039 0.00001
NM_016204.4(GDF2):c.1266C>T (p.Ser422=) rs782465391 0.00001
NM_016204.4(GDF2):c.1281G>T (p.Gly427=) rs781842184 0.00001
NM_016204.4(GDF2):c.129G>T (p.Val43=) rs764356554 0.00001
NM_016204.4(GDF2):c.252G>A (p.Glu84=) rs1410431494 0.00001
NM_016204.4(GDF2):c.254C>T (p.Pro85Leu) rs199804679 0.00001
NM_016204.4(GDF2):c.273C>T (p.Asp91=) rs781965686 0.00001
NM_016204.4(GDF2):c.286T>C (p.Tyr96His) rs142466901 0.00001
NM_016204.4(GDF2):c.303G>A (p.Ser101=) rs782482281 0.00001
NM_016204.4(GDF2):c.329G>A (p.Arg110Gln) rs1443463485 0.00001
NM_016204.4(GDF2):c.346+19C>A rs538288079 0.00001
NM_016204.4(GDF2):c.41C>G (p.Ser14Cys) rs1190807654 0.00001
NM_016204.4(GDF2):c.514A>G (p.Ile172Val) rs201712167 0.00001
NM_016204.4(GDF2):c.637C>T (p.Arg213Cys) rs1555208917 0.00001
NM_016204.4(GDF2):c.64G>A (p.Gly22Arg) rs1555208692 0.00001
NM_016204.4(GDF2):c.687T>C (p.Thr229=) rs1555208934 0.00001
NM_016204.4(GDF2):c.714C>T (p.Asp238=) rs782288867 0.00001
NM_016204.4(GDF2):c.792G>C (p.Gly264=) rs781907754 0.00001
NM_016204.4(GDF2):c.825del (p.Met275fs) rs1555209009 0.00001
NM_016204.4(GDF2):c.870C>T (p.Asp290=) rs782675565 0.00001
NM_016204.4(GDF2):c.936G>A (p.Ser312=) rs782232499 0.00001
NM_016204.4(GDF2):c.949C>T (p.Arg317Trp) rs559992144 0.00001
NM_016204.4(GDF2):c.960C>T (p.Ser320=) rs782203502 0.00001
NM_016204.4(GDF2):c.964G>A (p.Gly322Arg) rs782796080 0.00001
GRCh37/hg19 10q11.22-11.23(chr10:46576515-51680164)
NC_000010.10:g.(?_48413558)_(48416713_?)del
NC_000010.10:g.(?_48413568)_(48416703_?)del
NC_000010.10:g.(?_48413568)_(48416703_?)dup
NC_000010.10:g.(?_48413578)_(48416693_?)del
NM_016204.4(GDF2):c.1005C>T (p.Asn335=) rs2061102920
NM_016204.4(GDF2):c.1023G>C (p.Trp341Cys) rs1555209063
NM_016204.4(GDF2):c.1042C>T (p.Pro348Ser)
NM_016204.4(GDF2):c.1063G>A (p.Glu355Lys) rs1200646207
NM_016204.4(GDF2):c.1084T>C (p.Phe362Leu)
NM_016204.4(GDF2):c.108C>T (p.Asn36=)
NM_016204.4(GDF2):c.1095T>C (p.Ala365=)
NM_016204.4(GDF2):c.10G>A (p.Gly4Arg) rs2061088172
NM_016204.4(GDF2):c.1101T>C (p.Asp367=) rs1415249127
NM_016204.4(GDF2):c.1119C>T (p.His373=)
NM_016204.4(GDF2):c.1125C>T (p.Ile375=)
NM_016204.4(GDF2):c.1135del (p.Leu379fs) rs1259967380
NM_016204.4(GDF2):c.1139T>C (p.Val380Ala) rs567200323
NM_016204.4(GDF2):c.1152C>T (p.Phe384=)
NM_016204.4(GDF2):c.1162G>A (p.Val388Met) rs2132236835
NM_016204.4(GDF2):c.1172C>T (p.Ala391Val)
NM_016204.4(GDF2):c.1185_1191delinsTG (p.Thr396fs)
NM_016204.4(GDF2):c.1190A>G (p.Lys397Arg) rs536912270
NM_016204.4(GDF2):c.120A>C (p.Pro40=) rs781963055
NM_016204.4(GDF2):c.121C>G (p.Leu41Val)
NM_016204.4(GDF2):c.1233G>A (p.Val411=)
NM_016204.4(GDF2):c.1243A>T (p.Lys415Ter) rs2132236938
NM_016204.4(GDF2):c.124G>T (p.Gly42Trp)
NM_016204.4(GDF2):c.1267G>A (p.Val423Met) rs1358534877
NM_016204.4(GDF2):c.126G>A (p.Gly42=) rs1023303066
NM_016204.4(GDF2):c.134G>A (p.Gly45Glu)
NM_016204.4(GDF2):c.159C>T (p.Phe53=) rs2132234200
NM_016204.4(GDF2):c.18G>A (p.Leu6=) rs1555208681
NM_016204.4(GDF2):c.198C>T (p.Phe66=) rs2061089520
NM_016204.4(GDF2):c.203G>T (p.Arg68Leu) rs200330818
NM_016204.4(GDF2):c.258G>A (p.Pro86=)
NM_016204.4(GDF2):c.283A>C (p.Arg95=) rs2061090101
NM_016204.4(GDF2):c.290C>G (p.Thr97Arg)
NM_016204.4(GDF2):c.291G>A (p.Thr97=)
NM_016204.4(GDF2):c.294C>T (p.Ser98=)
NM_016204.4(GDF2):c.303G>C (p.Ser101=)
NM_016204.4(GDF2):c.309G>A (p.Thr103=)
NM_016204.4(GDF2):c.311C>T (p.Pro104Leu)
NM_016204.4(GDF2):c.314C>T (p.Ala105Val) rs781829279
NM_016204.4(GDF2):c.346+11C>T
NM_016204.4(GDF2):c.346+12G>T
NM_016204.4(GDF2):c.346+17C>A
NM_016204.4(GDF2):c.346+18A>G
NM_016204.4(GDF2):c.347-17G>A
NM_016204.4(GDF2):c.347-18C>T
NM_016204.4(GDF2):c.347-5T>G
NM_016204.4(GDF2):c.348T>C (p.Asp116=) rs2061098325
NM_016204.4(GDF2):c.34C>G (p.Leu12Val)
NM_016204.4(GDF2):c.36G>A (p.Leu12=)
NM_016204.4(GDF2):c.381C>G (p.Pro127=)
NM_016204.4(GDF2):c.40_48dup (p.Ser14_Leu16dup) rs781911497
NM_016204.4(GDF2):c.419C>T (p.Pro140Leu) rs2061098704
NM_016204.4(GDF2):c.41C>T (p.Ser14Phe)
NM_016204.4(GDF2):c.451C>T (p.Arg151Ter)
NM_016204.4(GDF2):c.455T>A (p.Leu152His) rs2061098935
NM_016204.4(GDF2):c.464C>T (p.Ser155Phe)
NM_016204.4(GDF2):c.486C>G (p.Pro162=)
NM_016204.4(GDF2):c.489T>G (p.Ser163=)
NM_016204.4(GDF2):c.492T>C (p.His164=)
NM_016204.4(GDF2):c.507C>T (p.Ser169=) rs373090748
NM_016204.4(GDF2):c.508G>A (p.Val170Met)
NM_016204.4(GDF2):c.513C>A (p.Val171=)
NM_016204.4(GDF2):c.521A>T (p.Asp174Val)
NM_016204.4(GDF2):c.573C>T (p.Phe191=)
NM_016204.4(GDF2):c.603C>A (p.Gly201=)
NM_016204.4(GDF2):c.630C>T (p.Ala210=)
NM_016204.4(GDF2):c.631G>A (p.Val211Met)
NM_016204.4(GDF2):c.639C>T (p.Arg213=)
NM_016204.4(GDF2):c.641G>A (p.Trp214Ter)
NM_016204.4(GDF2):c.651C>T (p.Ser217=)
NM_016204.4(GDF2):c.69G>A (p.Lys23=) rs549031631
NM_016204.4(GDF2):c.69G>T (p.Lys23Asn) rs549031631
NM_016204.4(GDF2):c.705_706delinsAA (p.Gly236Ser) rs1555208939
NM_016204.4(GDF2):c.738A>G (p.Pro246=) rs2132236287
NM_016204.4(GDF2):c.740G>C (p.Gly247Ala) rs369219783
NM_016204.4(GDF2):c.740G>T (p.Gly247Val) rs369219783
NM_016204.4(GDF2):c.750C>T (p.Asn250=) rs782092613
NM_016204.4(GDF2):c.768C>T (p.Val256=)
NM_016204.4(GDF2):c.808C>T (p.Leu270=)
NM_016204.4(GDF2):c.833A>C (p.His278Pro)
NM_016204.4(GDF2):c.846C>T (p.Ser282=)
NM_016204.4(GDF2):c.857dup (p.Leu287fs)
NM_016204.4(GDF2):c.859C>T (p.Leu287=)
NM_016204.4(GDF2):c.864C>T (p.Ser288=)
NM_016204.4(GDF2):c.879A>G (p.Thr293=)
NM_016204.4(GDF2):c.882G>A (p.Glu294=)
NM_016204.4(GDF2):c.89G>A (p.Arg30Gln) rs368827442
NM_016204.4(GDF2):c.89G>C (p.Arg30Pro) rs368827442
NM_016204.4(GDF2):c.900C>T (p.His300=) rs534175902
NM_016204.4(GDF2):c.906G>A (p.Glu302=)
NM_016204.4(GDF2):c.912G>A (p.Thr304=)
NM_016204.4(GDF2):c.921C>T (p.His307=)
NM_016204.4(GDF2):c.950G>A (p.Arg317Gln)
NM_016204.4(GDF2):c.961G>A (p.Ala321Thr)
NM_016204.4(GDF2):c.963C>A (p.Ala321=) rs370309301
NM_016204.4(GDF2):c.967G>A (p.Ala323Thr)
NM_016204.4(GDF2):c.97G>A (p.Ala33Thr)
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp) rs35129734

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