List of variants in gene NOTCH3 reported as pathogenic 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys)	rs28933697	0.00001
NM_000435.3(NOTCH3):c.1364G>T (p.Cys455Phe)	rs886041513
NM_000435.3(NOTCH3):c.323G>T (p.Cys108Phe)	rs1555729584
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys)	rs775836288
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys)	rs137852642
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys)	rs1174625611
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)	rs28933696
NM_000435.3(NOTCH3):c.6508dup (p.Leu2170fs)	rs1555725058
NM_000435.3(NOTCH3):c.6560_6563dup (p.Leu2189fs)	rs1599359388
NM_000435.3(NOTCH3):c.6633C>G (p.Tyr2211Ter)	rs935487877
NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter)	rs869312911
NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs)	rs773656789
NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys)	rs137852641

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