List of variants in gene NOTCH1 reported as likely pathogenic by PreventionGenetics, part of Exact Sciences

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.428C>T (p.Pro143Leu)	rs1228192276	0.00001
NM_017617.5(NOTCH1):c.2015-1G>A
NM_017617.5(NOTCH1):c.201dup (p.Cys68fs)
NM_017617.5(NOTCH1):c.3332_3347del (p.Asp1111fs)
NM_017617.5(NOTCH1):c.3856C>T (p.Gln1286Ter)	rs2133343317
NM_017617.5(NOTCH1):c.4549G>C (p.Asp1517His)	rs1554727954
NM_017617.5(NOTCH1):c.4906G>T (p.Glu1636Ter)	rs764006572

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