ClinVar Miner

List of variants in gene NOTCH2 reported as pathogenic by Baylor Genetics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter) rs1325403451 0.00001
NM_024408.4(NOTCH2):c.5123_5132delinsAGA (p.Ser1708_Leu1711delinsTer) rs1649314295

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