ClinVar Miner

List of variants in gene NOTCH1 reported as pathogenic for Aortic valve disorder

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Total variants: 7
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HGVS dbSNP
NM_017617.4(NOTCH1):c.4512delC (p.Cys1505Valfs) rs41309766
NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met) rs61755997
NM_017617.5(NOTCH1):c.2439C>G (p.Tyr813Ter) rs1057515422
NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter) rs41309764
NM_017617.5(NOTCH1):c.3765C>A (p.Cys1255Ter) rs1057515423
NM_017617.5(NOTCH1):c.6348C>G (p.Tyr2116Ter) rs1057518661
NOTCH1, PRO1797HIS

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