ClinVar Miner

List of variants studied for Aortic valve disorder; Familial thoracic aortic aneurysm and aortic dissection by Blueprint Genetics

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Total variants: 4
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HGVS dbSNP
NM_001278074.1(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_017617.5(NOTCH1):c.2021T>C (p.Met674Thr) rs587782970
NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys) rs745901158
NM_080473.5(GATA5):c.1159C>T (p.Arg387Cys) rs145205240

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