List of variants in gene NOTCH1 studied for Inborn genetic diseases

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.166C>T (p.Arg56Ter)	rs1348892740	0.00001
NM_017617.5(NOTCH1):c.1363G>C (p.Glu455Gln)	rs1554729950
NM_017617.5(NOTCH1):c.1430T>A (p.Ile477Asn)	rs1843299891
NM_017617.5(NOTCH1):c.1816G>A (p.Glu606Lys)	rs1381792229
NM_017617.5(NOTCH1):c.3052del (p.Cys1018fs)	rs1554728529

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