List of variants in gene combination LOC130003020, NOTCH1 reported as uncertain significance by GeneDx

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.19C>A (p.Pro7Thr)	rs1397523469	0.00002
NM_017617.5(NOTCH1):c.35C>T (p.Ala12Val)	rs1473062369	0.00001
NM_017617.5(NOTCH1):c.29G>A (p.Cys10Tyr)	rs1843806739
NM_017617.5(NOTCH1):c.32T>G (p.Leu11Arg)	rs2133408615
NM_017617.5(NOTCH1):c.46G>A (p.Ala16Thr)	rs2133408578

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