List of variants in gene NOTCH3 reported as uncertain significance for Myofibromatosis, infantile, 2

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000435.3(NOTCH3):c.214G>A (p.Val72Met)	rs2046938247	0.00001
NM_000435.3(NOTCH3):c.3970T>A (p.Cys1324Ser)
NM_000435.3(NOTCH3):c.5114+11T>G	rs2046721049

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