ClinVar Miner

List of variants in gene GDF2 reported as likely benign for Telangiectasia, hereditary hemorrhagic, type 5

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Total variants: 103
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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.917G>A (p.Gly306Asp) rs145635235 0.00038
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser) rs140271276 0.00031
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.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.903G>A (p.Glu301=) rs199937159 0.00008
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.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.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.717G>A (p.Thr239=) rs781821989 0.00003
NM_016204.4(GDF2):c.732C>T (p.Val244=) rs145385373 0.00003
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.627C>T (p.Ser209=) rs374479283 0.00002
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.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.273C>T (p.Asp91=) rs781965686 0.00001
NM_016204.4(GDF2):c.303G>A (p.Ser101=) rs782482281 0.00001
NM_016204.4(GDF2):c.346+19C>A rs538288079 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.870C>T (p.Asp290=) rs782675565 0.00001
NM_016204.4(GDF2):c.936G>A (p.Ser312=) rs782232499 0.00001
NM_016204.4(GDF2):c.960C>T (p.Ser320=) rs782203502 0.00001
NM_016204.4(GDF2):c.1005C>T (p.Asn335=) rs2061102920
NM_016204.4(GDF2):c.108C>T (p.Asn36=)
NM_016204.4(GDF2):c.1095T>C (p.Ala365=)
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.1139T>C (p.Val380Ala) rs567200323
NM_016204.4(GDF2):c.1152C>T (p.Phe384=)
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.1233G>A (p.Val411=)
NM_016204.4(GDF2):c.126G>A (p.Gly42=) rs1023303066
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.258G>A (p.Pro86=)
NM_016204.4(GDF2):c.283A>C (p.Arg95=) rs2061090101
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.346+11C>T
NM_016204.4(GDF2):c.346+12G>T
NM_016204.4(GDF2):c.346+17C>A
NM_016204.4(GDF2):c.347-17G>A
NM_016204.4(GDF2):c.347-18C>T
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.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.513C>A (p.Val171=)
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.639C>T (p.Arg213=)
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.738A>G (p.Pro246=) rs2132236287
NM_016204.4(GDF2):c.740G>C (p.Gly247Ala) 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.846C>T (p.Ser282=)
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.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.963C>A (p.Ala321=) rs370309301
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp) rs35129734

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