ClinVar Miner

List of variants in gene NOTCH1 reported as pathogenic for not provided

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Total variants: 3
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NM_017617.5(NOTCH1):c.2023del (p.Cys675fs) rs1064795976
NM_017617.5(NOTCH1):c.6045del (p.Asn2016fs) rs1554826736
NM_017617.5(NOTCH1):c.6593C>A (p.Ser2198Ter) rs761562076

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