ClinVar Miner

List of variants in gene NOTCH2 reported by Metabolic Disease laboratory, Sheba Medical Center

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.7078C>T (p.Gln2360Ter) rs1553193485

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