List of variants in gene NOTCH3 reported as benign by Invitae

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: 97

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000435.3(NOTCH3):c.4563A>G (p.Pro1521=)	rs1044006	0.90693
NM_000435.3(NOTCH3):c.5362+3T>C	rs1548555	0.90675
NM_000435.3(NOTCH3):c.5816-8T>C	rs4809030	0.90632
NM_000435.3(NOTCH3):c.5363-17C>T	rs2074619	0.90508
NM_000435.3(NOTCH3):c.1192+15A>G	rs10423702	0.87325
NM_000435.3(NOTCH3):c.606A>G (p.Ala202=)	rs1043994	0.87319
NM_000435.3(NOTCH3):c.2742A>G (p.Pro914=)	rs1043997	0.76937
NM_000435.3(NOTCH3):c.6668C>T (p.Ala2223Val)	rs1044009	0.69087
NM_000435.3(NOTCH3):c.2538C>T (p.Cys846=)	rs1043996	0.56438
NM_000435.3(NOTCH3):c.303C>T (p.Thr101=)	rs3815188	0.18114
NM_000435.3(NOTCH3):c.5526T>C (p.Ala1842=)	rs16980398	0.12317
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro)	rs35769976	0.10508
NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met)	rs10408676	0.08167
NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=)	rs1044008	0.03162
NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu)	rs114447350	0.02709
NM_000435.3(NOTCH3):c.6753C>T (p.Ser2251=)	rs61731975	0.02703
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=)	rs61749020	0.02545
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln)	rs112197217	0.01566
NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His)	rs10406745	0.01547
NM_000435.3(NOTCH3):c.6102C>T (p.Pro2034=)	rs114887570	0.01539
NM_000435.3(NOTCH3):c.6813T>C (p.Pro2271=)	rs61731974	0.01445
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu)	rs11670799	0.01273
NM_000435.3(NOTCH3):c.1782C>T (p.Gly594=)	rs35793356	0.01231
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met)	rs115582213	0.00841
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu)	rs114207045	0.00755
NM_000435.3(NOTCH3):c.5400G>T (p.Gly1800=)	rs34480308	0.00591
NM_000435.3(NOTCH3):c.3704A>T (p.His1235Leu)	rs55882518	0.00433
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro)	rs78501403	0.00417
NM_000435.3(NOTCH3):c.3719-11C>T	rs78907190	0.00367
NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=)	rs140040122	0.00306
NM_000435.3(NOTCH3):c.2411-4C>G	rs190177286	0.00295
NM_000435.3(NOTCH3):c.5370C>T (p.Phe1790=)	rs35887416	0.00287
NM_000435.3(NOTCH3):c.2507C>T (p.Thr836Ile)	rs34338511	0.00222
NM_000435.3(NOTCH3):c.2724C>T (p.Phe908=)	rs61731967	0.00222
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met)	rs141320511	0.00217
NM_000435.3(NOTCH3):c.2175T>C (p.Ser725=)	rs141993521	0.00214
NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His)	rs75291244	0.00213
NM_000435.3(NOTCH3):c.3718+13G>T	rs201077354	0.00188
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg)	rs147373451	0.00184
NM_000435.3(NOTCH3):c.4374C>T (p.Cys1458=)	rs150288106	0.00162
NM_000435.3(NOTCH3):c.3314G>C (p.Gly1105Ala)	rs143764521	0.00158
NM_000435.3(NOTCH3):c.6237G>A (p.Gly2079=)	rs376598183	0.00145
NM_000435.3(NOTCH3):c.2682C>T (p.Asn894=)	rs138245070	0.00107
NM_000435.3(NOTCH3):c.4737-19C>T	rs180755159	0.00105
NM_000435.3(NOTCH3):c.660C>T (p.Tyr220=)	rs114457076	0.00091
NM_000435.3(NOTCH3):c.1607-5C>A	rs372869012	0.00081
NM_000435.3(NOTCH3):c.2835G>A (p.Ser945=)	rs141346023	0.00081
NM_000435.3(NOTCH3):c.5510G>A (p.Arg1837His)	rs138265894	0.00066
NM_000435.3(NOTCH3):c.338G>A (p.Arg113Gln)	rs143385744	0.00064
NM_000435.3(NOTCH3):c.2411-11C>A	rs201130717	0.00043
NM_000435.3(NOTCH3):c.4639C>G (p.Leu1547Val)	rs150037063	0.00043
NM_000435.3(NOTCH3):c.3629G>A (p.Arg1210His)	rs35031555	0.00041
NM_000435.3(NOTCH3):c.1194C>T (p.Gly398=)	rs140368657	0.00036
NM_000435.3(NOTCH3):c.2580C>T (p.Asn860=)	rs201436750	0.00035
NM_000435.3(NOTCH3):c.3523C>T (p.Arg1175Trp)	rs200504060	0.00028
NM_000435.3(NOTCH3):c.2183G>A (p.Arg728His)	rs144935367	0.00024
NM_000435.3(NOTCH3):c.850G>A (p.Ala284Thr)	rs149307620	0.00024
NM_000435.3(NOTCH3):c.340+14A>G	rs202136001	0.00022
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys)	rs375873637	0.00020
NM_000435.3(NOTCH3):c.5460C>A (p.Ile1820=)	rs114661066	0.00016
NM_000435.3(NOTCH3):c.996C>T (p.Arg332=)	rs183500505	0.00016
NM_000435.3(NOTCH3):c.1760G>A (p.Arg587His)	rs142787620	0.00014
NM_000435.3(NOTCH3):c.499C>T (p.Pro167Ser)	rs202157633	0.00014
NM_000435.3(NOTCH3):c.1677C>T (p.Cys559=)	rs113216024	0.00013
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His)	rs372241697	0.00013
NM_000435.3(NOTCH3):c.135C>T (p.Asp45=)	rs370177269	0.00012
NM_000435.3(NOTCH3):c.4348G>A (p.Ala1450Thr)	rs201082692	0.00011
NM_000435.3(NOTCH3):c.5323G>A (p.Ala1775Thr)	rs139983430	0.00009
NM_000435.3(NOTCH3):c.5937C>T (p.Ala1979=)	rs570392715	0.00006
NM_000435.3(NOTCH3):c.1567G>A (p.Val523Met)	rs564452430	0.00005
NM_000435.3(NOTCH3):c.3327+10C>T	rs747489033	0.00005
NM_000435.3(NOTCH3):c.1678G>A (p.Val560Met)	rs200160665	0.00004
NM_000435.3(NOTCH3):c.223C>T (p.Arg75Trp)	rs762164861	0.00004
NM_000435.3(NOTCH3):c.1692C>T (p.Ala564=)	rs372158498	0.00003
NM_000435.3(NOTCH3):c.5199+20C>T	rs769829213	0.00002
NM_000435.3(NOTCH3):c.815C>T (p.Thr272Met)	rs749561286	0.00002
NM_000435.3(NOTCH3):c.2053C>A (p.Pro685Thr)	rs774900511	0.00001
NM_000435.3(NOTCH3):c.3327+11G>A	rs777978969	0.00001
NM_000435.3(NOTCH3):c.4347C>T (p.Pro1449=)	rs747087788	0.00001
NM_000435.3(NOTCH3):c.6654C>T (p.Gly2218=)	rs528209250	0.00001
NM_000435.3(NOTCH3):c.1036+15dup
NM_000435.3(NOTCH3):c.1037-19del	rs751607564
NM_000435.3(NOTCH3):c.108G>A (p.Pro36=)
NM_000435.3(NOTCH3):c.1607-14T>C
NM_000435.3(NOTCH3):c.1620G>T (p.Thr540=)	rs75617410
NM_000435.3(NOTCH3):c.1641C>T (p.Asp547=)
NM_000435.3(NOTCH3):c.1725G>A (p.Thr575=)	rs79926127
NM_000435.3(NOTCH3):c.1919G>A (p.Arg640His)
NM_000435.3(NOTCH3):c.276C>T (p.Val92=)
NM_000435.3(NOTCH3):c.3901G>A (p.Gly1301Ser)
NM_000435.3(NOTCH3):c.4736+9dup	rs369417981
NM_000435.3(NOTCH3):c.4899G>C (p.Pro1633=)
NM_000435.3(NOTCH3):c.5199+13dup
NM_000435.3(NOTCH3):c.5505T>C (p.Thr1835=)
NM_000435.3(NOTCH3):c.5668-11C>T	rs199850662
NM_000435.3(NOTCH3):c.5914-10G>C
NM_000435.3(NOTCH3):c.5943C>T (p.Arg1981=)

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.