ClinVar Miner

List of variants in gene NOTCH1 reported as pathogenic by OMIM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met) rs61755997 0.00020
NM_017617.5(NOTCH1):c.1285T>C (p.Cys429Arg) rs587777736
NM_017617.5(NOTCH1):c.1649dup (p.Tyr550Ter) rs864622059
NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter) rs41309764
NM_017617.5(NOTCH1):c.4120T>C (p.Cys1374Arg) rs864622060
NM_017617.5(NOTCH1):c.4487G>A (p.Cys1496Tyr) rs587781259
NM_017617.5(NOTCH1):c.4512del (p.Cys1505fs) rs41309766
NM_017617.5(NOTCH1):c.743-1G>T rs587777735
NOTCH1, PRO1797HIS

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