List of variants in gene NOTCH3 reported as likely 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.1630C>T (p.Arg544Cys)	rs201118034	0.00010
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)	rs1167405466	0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)	rs775267348	0.00001
NM_000435.3(NOTCH3):c.1235A>G (p.Gln412Arg)	rs1131691934
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)	rs75068032
NM_000435.3(NOTCH3):c.1790G>A (p.Cys597Tyr)	rs2046888772
NM_000435.3(NOTCH3):c.3182G>A (p.Cys1061Tyr)	rs1064794216
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys)	rs797045014
NM_000435.3(NOTCH3):c.5926dup (p.Leu1976fs)	rs1555725170
NM_000435.3(NOTCH3):c.602G>A (p.Cys201Tyr)	rs1555729468
NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr)	rs1555729452
NM_000435.3(NOTCH3):c.6692del (p.Pro2231fs)	rs773656789
NM_000435.3(NOTCH3):c.773A>G (p.Tyr258Cys)	rs947976672

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