List of variants in gene NOTCH3 reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys)	rs777751303	0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys)	rs28933697	0.00001
NM_000435.3(NOTCH3):c.1258G>T (p.Gly420Cys)	rs1323608032
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)	rs75068032
NM_000435.3(NOTCH3):c.268C>T (p.Arg90Cys)	rs1555729604
NM_000435.3(NOTCH3):c.3016C>T (p.Arg1006Cys)	rs1555727942
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys)	rs775836288
NM_000435.3(NOTCH3):c.341-2A>T
NM_000435.3(NOTCH3):c.350G>T (p.Cys117Phe)	rs773539041
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.437G>A (p.Cys146Tyr)	rs1236699193
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys)	rs797045014
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)	rs28933696
NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys)	rs137852641

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