ClinVar Miner

List of variants in gene NOTCH3 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.5992C>T (p.Arg1998Cys) rs201105335 0.00046
NM_000435.3(NOTCH3):c.3629G>A (p.Arg1210His) rs35031555 0.00041
NM_000435.3(NOTCH3):c.4046C>T (p.Ser1349Phe) rs937871148 0.00009
NM_000435.3(NOTCH3):c.487C>T (p.Arg163Trp) rs367707092 0.00006
NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp) rs753170185 0.00006
NM_000435.3(NOTCH3):c.1567G>A (p.Val523Met) rs564452430 0.00005
NM_000435.3(NOTCH3):c.3575C>T (p.Thr1192Ile) rs150811543 0.00005
NM_000435.3(NOTCH3):c.4333G>T (p.Ala1445Ser) rs377578886 0.00005
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) rs144163298 0.00004
NM_000435.3(NOTCH3):c.6926C>G (p.Pro2309Arg) rs548018044 0.00004
NM_000435.3(NOTCH3):c.2254G>A (p.Asp752Asn) rs377521258 0.00002
NM_000435.3(NOTCH3):c.5396G>A (p.Cys1799Tyr) rs1336048311 0.00002
NM_000435.3(NOTCH3):c.5618G>A (p.Arg1873His) rs780169747 0.00002
NM_000435.3(NOTCH3):c.1232C>T (p.Thr411Met) rs1555729077 0.00001
NM_000435.3(NOTCH3):c.1463T>G (p.Val488Gly) rs760245739 0.00001
NM_000435.3(NOTCH3):c.2137C>T (p.Pro713Ser) rs147855256 0.00001
NM_000435.3(NOTCH3):c.2209G>A (p.Ala737Thr) rs754815179 0.00001
NM_000435.3(NOTCH3):c.3364G>A (p.Asp1122Asn) rs140147764 0.00001
NM_000435.3(NOTCH3):c.3463G>T (p.Val1155Leu) rs762281787 0.00001
NM_000435.3(NOTCH3):c.1270A>G (p.Thr424Ala)
NM_000435.3(NOTCH3):c.2074T>C (p.Cys692Arg)
NM_000435.3(NOTCH3):c.2141G>A (p.Gly714Asp)
NM_000435.3(NOTCH3):c.2215G>A (p.Glu739Lys)
NM_000435.3(NOTCH3):c.2354G>T (p.Arg785Leu)
NM_000435.3(NOTCH3):c.2495G>A (p.Ser832Asn)
NM_000435.3(NOTCH3):c.2530C>T (p.Pro844Ser)
NM_000435.3(NOTCH3):c.2542C>G (p.Gln848Glu)
NM_000435.3(NOTCH3):c.2684C>T (p.Pro895Leu)
NM_000435.3(NOTCH3):c.2759A>G (p.His920Arg)
NM_000435.3(NOTCH3):c.2938G>T (p.Ala980Ser)
NM_000435.3(NOTCH3):c.3353A>T (p.Asn1118Ile)
NM_000435.3(NOTCH3):c.3476T>C (p.Ile1159Thr)
NM_000435.3(NOTCH3):c.3509T>G (p.Leu1170Arg)
NM_000435.3(NOTCH3):c.3542C>T (p.Thr1181Ile) rs1216306549
NM_000435.3(NOTCH3):c.3838C>A (p.Pro1280Thr) rs958354298
NM_000435.3(NOTCH3):c.3865G>A (p.Val1289Met)
NM_000435.3(NOTCH3):c.4582A>G (p.Ser1528Gly)
NM_000435.3(NOTCH3):c.4588G>A (p.Asp1530Asn)
NM_000435.3(NOTCH3):c.4913A>G (p.Glu1638Gly)
NM_000435.3(NOTCH3):c.5901G>A (p.Met1967Ile) rs373866355
NM_000435.3(NOTCH3):c.6051C>G (p.His2017Gln)
NM_000435.3(NOTCH3):c.6148C>T (p.Leu2050Phe)
NM_000435.3(NOTCH3):c.61C>T (p.Pro21Ser)
NM_000435.3(NOTCH3):c.6337G>A (p.Gly2113Arg)
NM_000435.3(NOTCH3):c.6433C>T (p.Arg2145Trp)
NM_000435.3(NOTCH3):c.6643C>G (p.Pro2215Ala)
NM_000435.3(NOTCH3):c.6709C>G (p.Arg2237Gly) rs749189648
NM_000435.3(NOTCH3):c.6755C>T (p.Pro2252Leu) rs201073642

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.