ClinVar Miner

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

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_016204.4(GDF2):c.76C>T (p.Gln26Ter) rs1555208696 0.00003
NM_016204.4(GDF2):c.254C>T (p.Pro85Leu) rs199804679 0.00001
NC_000010.10:g.(?_48413578)_(48416693_?)del
NM_016204.4(GDF2):c.1135del (p.Leu379fs) rs1259967380
NM_016204.4(GDF2):c.1185_1191delinsTG (p.Thr396fs)
NM_016204.4(GDF2):c.203G>T (p.Arg68Leu) rs200330818
NM_016204.4(GDF2):c.451C>T (p.Arg151Ter)
NM_016204.4(GDF2):c.641G>A (p.Trp214Ter)
NM_016204.4(GDF2):c.857dup (p.Leu287fs)
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp) rs35129734

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