ClinVar Miner

List of variants in gene NOTCH1 reported as pathogenic by Centre of Medical Genetics, University of Antwerp

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Total variants: 8
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HGVS dbSNP
NM_017617.5(NOTCH1):c.1669+5G>A rs771590616
NM_017617.5(NOTCH1):c.1933_1934TG[1] (p.Ala646fs) rs1554729443
NM_017617.5(NOTCH1):c.2380G>T (p.Glu794Ter) rs1554729113
NM_017617.5(NOTCH1):c.2704C>T (p.Arg902Cys) rs1448345366
NM_017617.5(NOTCH1):c.3281G>A (p.Cys1094Tyr) rs1554728424
NM_017617.5(NOTCH1):c.415C>T (p.Gln139Ter) rs1554730670
NM_017617.5(NOTCH1):c.4222G>T (p.Glu1408Ter) rs587778569
NM_017617.5(NOTCH1):c.794_797delinsCC (p.Asn265fs) rs1554730184

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