List of variants in gene NOTCH1 reported as pathogenic for NOTCH1-related disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.1537C>T (p.Gln513Ter)	rs2540459597
NM_017617.5(NOTCH1):c.2436del (p.Tyr813fs)	rs35768530
NM_017617.5(NOTCH1):c.2536C>T (p.Gln846Ter)	rs1589063073
NM_017617.5(NOTCH1):c.3170del (p.Gln1057fs)	rs2540444114
NM_017617.5(NOTCH1):c.3684del (p.Val1229fs)	rs2133344193
NM_017617.5(NOTCH1):c.4315_4318dup (p.Ile1440fs)	rs2540437588
NM_017617.5(NOTCH1):c.5078T>C (p.Phe1693Ser)	rs2133333494

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