ClinVar Miner

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

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Total variants: 11
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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.34C>T (p.Leu12=) rs61758973 0.00040
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.378C>A (p.Phe126Leu) rs180821007 0.00010
NM_016204.4(GDF2):c.73C>T (p.Leu25=) rs200760960 0.00004
NM_016204.4(GDF2):c.346+18A>G

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