List of variants in gene NOTCH3 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 17

Download table as spreadsheet

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.619C>T (p.Arg207Cys)	rs775267348	0.00001
NM_000435.3(NOTCH3):c.1532G>A (p.Cys511Tyr)	rs2046897213
NM_000435.3(NOTCH3):c.1582G>T (p.Gly528Cys)
NM_000435.3(NOTCH3):c.1790G>A (p.Cys597Tyr)	rs2046888772
NM_000435.3(NOTCH3):c.268C>T (p.Arg90Cys)	rs1555729604
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.457C>T (p.Arg153Cys)	rs797045014
NM_000435.3(NOTCH3):c.484T>C (p.Cys162Arg)	rs2145441998
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)	rs28933696
NM_000435.3(NOTCH3):c.520T>A (p.Cys174Ser)	rs1599394806
NM_000435.3(NOTCH3):c.521G>A (p.Cys174Tyr)	rs1555729486
NM_000435.3(NOTCH3):c.581G>T (p.Cys194Phe)	rs2145441541
NM_000435.3(NOTCH3):c.967T>A (p.Cys323Ser)	rs2145439777

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.