ClinVar Miner

List of variants reported as uncertain significance for Telangiectasia, hereditary hemorrhagic, type 5

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser) rs201711410 0.00045
NM_016204.4(GDF2):c.917G>A (p.Gly306Asp) rs145635235 0.00038
NM_016204.4(GDF2):c.221G>A (p.Gly74Glu) rs151296940 0.00024
NM_016204.4(GDF2):c.712G>A (p.Asp238Asn) rs137873272 0.00014
NM_016204.4(GDF2):c.1207G>A (p.Val403Ile) rs367957332 0.00008
NM_016204.4(GDF2):c.847G>A (p.Val283Met) rs138904328 0.00007
NM_016204.4(GDF2):c.203G>A (p.Arg68His) rs200330818 0.00005
NM_016204.4(GDF2):c.716C>T (p.Thr239Met) rs782560993 0.00004
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.1075G>A (p.Gly359Ser) rs1272846013 0.00002
NM_016204.4(GDF2):c.619G>T (p.Val207Leu) rs148262680 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.1255G>A (p.Glu419Lys) rs782137039 0.00001
NM_016204.4(GDF2):c.252G>A (p.Glu84=) rs1410431494 0.00001
NM_016204.4(GDF2):c.286T>C (p.Tyr96His) rs142466901 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.825del (p.Met275fs) rs1555209009 0.00001
NM_016204.4(GDF2):c.949C>T (p.Arg317Trp) rs559992144 0.00001
NM_016204.4(GDF2):c.964G>A (p.Gly322Arg) rs782796080 0.00001
NC_000010.10:g.(?_48413558)_(48416713_?)del
NC_000010.10:g.(?_48413568)_(48416703_?)del
NC_000010.10:g.(?_48413568)_(48416703_?)dup
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.10G>A (p.Gly4Arg) rs2061088172
NM_016204.4(GDF2):c.1162G>A (p.Val388Met) rs2132236835
NM_016204.4(GDF2):c.1172C>T (p.Ala391Val)
NM_016204.4(GDF2):c.121C>G (p.Leu41Val)
NM_016204.4(GDF2):c.1243A>T (p.Lys415Ter) rs2132236938
NM_016204.4(GDF2):c.124G>T (p.Gly42Trp)
NM_016204.4(GDF2):c.134G>A (p.Gly45Glu)
NM_016204.4(GDF2):c.290C>G (p.Thr97Arg)
NM_016204.4(GDF2):c.311C>T (p.Pro104Leu)
NM_016204.4(GDF2):c.314C>T (p.Ala105Val) rs781829279
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.419C>T (p.Pro140Leu) rs2061098704
NM_016204.4(GDF2):c.41C>T (p.Ser14Phe)
NM_016204.4(GDF2):c.455T>A (p.Leu152His) rs2061098935
NM_016204.4(GDF2):c.464C>T (p.Ser155Phe)
NM_016204.4(GDF2):c.508G>A (p.Val170Met)
NM_016204.4(GDF2):c.521A>T (p.Asp174Val)
NM_016204.4(GDF2):c.631G>A (p.Val211Met)
NM_016204.4(GDF2):c.705_706delinsAA (p.Gly236Ser) rs1555208939
NM_016204.4(GDF2):c.740G>T (p.Gly247Val) rs369219783
NM_016204.4(GDF2):c.833A>C (p.His278Pro)
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.950G>A (p.Arg317Gln)
NM_016204.4(GDF2):c.961G>A (p.Ala321Thr)
NM_016204.4(GDF2):c.967G>A (p.Ala323Thr)
NM_016204.4(GDF2):c.97G>A (p.Ala33Thr)

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