ClinVar Miner

List of variants in gene NOTCH2 reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 167
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.7341T>A (p.Gly2447=) rs6685892 0.17147
NM_024408.4(NOTCH2):c.3234C>T (p.Cys1078=) rs7543643 0.06759
NM_024408.4(NOTCH2):c.6421C>T (p.Leu2141=) rs3795666 0.02137
NM_024408.4(NOTCH2):c.2599+12G>C rs74117573 0.01309
NM_024408.4(NOTCH2):c.4305G>A (p.Arg1435=) rs6692009 0.01225
NM_024408.4(NOTCH2):c.4014C>T (p.Ser1338=) rs17024525 0.00984
NM_024408.4(NOTCH2):c.3117G>A (p.Thr1039=) rs36084504 0.00817
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282 0.00375
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
NM_024408.4(NOTCH2):c.5065A>T (p.Ile1689Phe) rs60854092 0.00150
NM_024408.4(NOTCH2):c.4122C>T (p.Cys1374=) rs74117504 0.00143
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met) rs150516342 0.00141
NM_024408.4(NOTCH2):c.6094C>A (p.His2032Asn) rs143236410 0.00131
NM_024408.4(NOTCH2):c.4897G>A (p.Val1633Ile) rs116321057 0.00085
NM_024408.4(NOTCH2):c.5074A>G (p.Ile1692Val) rs143134864 0.00074
NM_024408.4(NOTCH2):c.2830G>T (p.Asp944Tyr) rs151130105 0.00067
NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys) rs147522485 0.00056
NM_024408.4(NOTCH2):c.1541A>G (p.Asn514Ser) rs34308573 0.00052
NM_024408.4(NOTCH2):c.1567+8C>T rs372367275 0.00052
NM_024408.4(NOTCH2):c.7140G>C (p.Val2380=) rs150785478 0.00051
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn) rs144047610 0.00050
NM_024408.4(NOTCH2):c.3655+54A>G rs587664838 0.00047
NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr) rs140311741 0.00039
NM_024408.4(NOTCH2):c.4973C>T (p.Thr1658Ile) rs142462128 0.00034
NM_024408.4(NOTCH2):c.7086C>T (p.Asp2362=) rs150657714 0.00029
NM_024408.4(NOTCH2):c.5161G>A (p.Ala1721Thr) rs115013051 0.00022
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln) rs146014987 0.00017
NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln) rs140832430 0.00016
NM_024408.4(NOTCH2):c.4929G>A (p.Thr1643=) rs587697719 0.00013
NM_024408.4(NOTCH2):c.6957G>A (p.Ala2319=) rs369891453 0.00011
NM_024408.4(NOTCH2):c.2196A>C (p.Gly732=) rs782101275 0.00010
NM_024408.4(NOTCH2):c.3995G>A (p.Arg1332His) rs587609362 0.00010
NM_024408.4(NOTCH2):c.2785G>A (p.Gly929Arg) rs199585130 0.00009
NM_024408.4(NOTCH2):c.6477G>A (p.Thr2159=) rs145566650 0.00009
NM_024408.4(NOTCH2):c.7038C>G (p.Ala2346=) rs148846611 0.00009
NM_024408.4(NOTCH2):c.3143G>A (p.Arg1048His) rs142831890 0.00007
NM_024408.4(NOTCH2):c.4922A>C (p.Lys1641Thr) rs148354054 0.00007
NM_024408.4(NOTCH2):c.1803C>T (p.Gly601=) rs377566312 0.00006
NM_024408.4(NOTCH2):c.3702T>C (p.His1234=) rs376503331 0.00006
NM_024408.4(NOTCH2):c.4169A>G (p.His1390Arg) rs373035180 0.00006
NM_024408.4(NOTCH2):c.4312G>A (p.Val1438Ile) rs745861610 0.00006
NM_024408.4(NOTCH2):c.6152G>A (p.Arg2051Gln) rs192122939 0.00006
NM_024408.4(NOTCH2):c.7413G>A (p.Ala2471=) rs771638958 0.00006
NM_024408.4(NOTCH2):c.956A>G (p.Asn319Ser) rs144936899 0.00006
NM_024408.4(NOTCH2):c.2816C>T (p.Pro939Leu) rs201100122 0.00005
NM_024408.4(NOTCH2):c.4740G>A (p.Lys1580=) rs367699419 0.00004
NM_024408.4(NOTCH2):c.5217T>C (p.Asn1739=) rs768669808 0.00004
NM_024408.4(NOTCH2):c.6711T>C (p.Ser2237=) rs369394477 0.00004
NM_024408.4(NOTCH2):c.6767G>A (p.Arg2256His) rs148759277 0.00004
NM_024408.4(NOTCH2):c.7263T>A (p.Ser2421=) rs369912969 0.00004
NM_024408.4(NOTCH2):c.2388T>A (p.Ile796=) rs138943874 0.00003
NM_024408.4(NOTCH2):c.2642C>T (p.Pro881Leu) rs782728045 0.00003
NM_024408.4(NOTCH2):c.3109G>A (p.Glu1037Lys) rs782463588 0.00003
NM_024408.4(NOTCH2):c.3652C>T (p.Arg1218Trp) rs587641573 0.00003
NM_024408.4(NOTCH2):c.4005G>A (p.Pro1335=) rs118188023 0.00003
NM_024408.4(NOTCH2):c.6028-4G>A rs372465730 0.00003
NM_024408.4(NOTCH2):c.6307T>A (p.Ser2103Thr) rs779311707 0.00003
NM_024408.4(NOTCH2):c.6343A>G (p.Ser2115Gly) rs34891988 0.00003
NM_024408.4(NOTCH2):c.6956C>T (p.Ala2319Val) rs373527990 0.00003
NM_024408.4(NOTCH2):c.6985C>T (p.Pro2329Ser) rs1278379367 0.00003
NM_024408.4(NOTCH2):c.7146G>A (p.Lys2382=) rs775423271 0.00003
NM_024408.4(NOTCH2):c.2636C>T (p.Ser879Phe) rs1004494435 0.00002
NM_024408.4(NOTCH2):c.4002C>G (p.Pro1334=) rs1390174762 0.00002
NM_024408.4(NOTCH2):c.4458G>A (p.Thr1486=) rs61756001 0.00002
NM_024408.4(NOTCH2):c.4998C>T (p.Val1666=) rs765967094 0.00002
NM_024408.4(NOTCH2):c.6178C>T (p.Arg2060Cys) rs746551843 0.00002
NM_024408.4(NOTCH2):c.6878A>C (p.His2293Pro) rs780904023 0.00002
NM_024408.4(NOTCH2):c.1032C>T (p.Phe344=) rs782702694 0.00001
NM_024408.4(NOTCH2):c.1791C>T (p.Pro597=) rs781999109 0.00001
NM_024408.4(NOTCH2):c.2295A>G (p.Pro765=) rs139358772 0.00001
NM_024408.4(NOTCH2):c.3246A>G (p.Lys1082=) rs782319639 0.00001
NM_024408.4(NOTCH2):c.3252G>A (p.Glu1084=) rs372751663 0.00001
NM_024408.4(NOTCH2):c.4178G>A (p.Arg1393His) rs587735797 0.00001
NM_024408.4(NOTCH2):c.4244C>T (p.Thr1415Met) rs758275919 0.00001
NM_024408.4(NOTCH2):c.4733G>A (p.Arg1578His) rs751299682 0.00001
NM_024408.4(NOTCH2):c.4992G>A (p.Val1664=) rs587748556 0.00001
NM_024408.4(NOTCH2):c.6516C>T (p.Ser2172=) rs587733506 0.00001
NM_024408.4(NOTCH2):c.6562G>A (p.Ala2188Thr) rs139052054 0.00001
NM_024408.4(NOTCH2):c.7199G>A (p.Arg2400Gln) rs587654671 0.00001
NM_024408.4(NOTCH2):c.822T>G (p.Val274=) rs782642000 0.00001
NM_024408.4(NOTCH2):c.*9A>C
NM_024408.4(NOTCH2):c.1067G>A (p.Arg356His)
NM_024408.4(NOTCH2):c.1308G>A (p.Thr436=)
NM_024408.4(NOTCH2):c.1325G>A (p.Cys442Tyr)
NM_024408.4(NOTCH2):c.1347A>G (p.Ala449=)
NM_024408.4(NOTCH2):c.1350A>G (p.Gly450=)
NM_024408.4(NOTCH2):c.1453+7G>C rs782513711
NM_024408.4(NOTCH2):c.1552T>G (p.Cys518Gly)
NM_024408.4(NOTCH2):c.1681+6A>G
NM_024408.4(NOTCH2):c.1789C>A (p.Pro597Thr)
NM_024408.4(NOTCH2):c.1905A>G (p.Pro635=)
NM_024408.4(NOTCH2):c.1923T>C (p.Asn641=)
NM_024408.4(NOTCH2):c.1986C>T (p.Gly662=)
NM_024408.4(NOTCH2):c.2097C>T (p.Asn699=)
NM_024408.4(NOTCH2):c.2098G>A (p.Gly700Ser)
NM_024408.4(NOTCH2):c.2099G>T (p.Gly700Val)
NM_024408.4(NOTCH2):c.2114G>A (p.Arg705His)
NM_024408.4(NOTCH2):c.2219+9C>T
NM_024408.4(NOTCH2):c.2475C>T (p.Tyr825=)
NM_024408.4(NOTCH2):c.2480-7T>C
NM_024408.4(NOTCH2):c.2560T>C (p.Phe854Leu) rs1650363387
NM_024408.4(NOTCH2):c.2660T>C (p.Leu887Pro)
NM_024408.4(NOTCH2):c.2753-8T>A
NM_024408.4(NOTCH2):c.2780T>C (p.Met927Thr)
NM_024408.4(NOTCH2):c.2928G>A (p.Gln976=)
NM_024408.4(NOTCH2):c.3075G>A (p.Glu1025=) rs782566942
NM_024408.4(NOTCH2):c.3103C>G (p.Leu1035Val)
NM_024408.4(NOTCH2):c.3116C>T (p.Thr1039Met)
NM_024408.4(NOTCH2):c.3139T>C (p.Tyr1047His)
NM_024408.4(NOTCH2):c.3144C>T (p.Arg1048=)
NM_024408.4(NOTCH2):c.3195T>C (p.Asn1065=)
NM_024408.4(NOTCH2):c.3226G>C (p.Gly1076Arg)
NM_024408.4(NOTCH2):c.3264A>G (p.Leu1088=)
NM_024408.4(NOTCH2):c.3297C>T (p.Asp1099=)
NM_024408.4(NOTCH2):c.3507T>C (p.Gly1169=)
NM_024408.4(NOTCH2):c.3544G>A (p.Val1182Ile)
NM_024408.4(NOTCH2):c.3654G>A (p.Arg1218=)
NM_024408.4(NOTCH2):c.3655+35G>A
NM_024408.4(NOTCH2):c.3655+35G>T
NM_024408.4(NOTCH2):c.3655+62T>G
NM_024408.4(NOTCH2):c.3789A>C (p.Gly1263=) rs149036937
NM_024408.4(NOTCH2):c.3900C>T (p.His1300=)
NM_024408.4(NOTCH2):c.4099T>G (p.Phe1367Val)
NM_024408.4(NOTCH2):c.4197C>G (p.Ser1399=)
NM_024408.4(NOTCH2):c.4355G>A (p.Gly1452Glu)
NM_024408.4(NOTCH2):c.4512-3T>G
NM_024408.4(NOTCH2):c.4541A>G (p.Lys1514Arg)
NM_024408.4(NOTCH2):c.4596G>A (p.Leu1532=)
NM_024408.4(NOTCH2):c.4657A>T (p.Met1553Leu)
NM_024408.4(NOTCH2):c.4700G>A (p.Arg1567Gln)
NM_024408.4(NOTCH2):c.4889G>A (p.Arg1630His)
NM_024408.4(NOTCH2):c.4959C>T (p.His1653=)
NM_024408.4(NOTCH2):c.4967A>G (p.Gln1656Arg)
NM_024408.4(NOTCH2):c.4996G>A (p.Val1666Ile)
NM_024408.4(NOTCH2):c.5024G>A (p.Arg1675His)
NM_024408.4(NOTCH2):c.5050G>A (p.Val1684Ile)
NM_024408.4(NOTCH2):c.5148T>C (p.Thr1716=)
NM_024408.4(NOTCH2):c.5177G>A (p.Arg1726His) rs1557804884
NM_024408.4(NOTCH2):c.5255C>T (p.Thr1752Ile)
NM_024408.4(NOTCH2):c.5401A>G (p.Arg1801Gly)
NM_024408.4(NOTCH2):c.5403G>T (p.Arg1801Ser)
NM_024408.4(NOTCH2):c.5470C>T (p.Arg1824Cys)
NM_024408.4(NOTCH2):c.5484C>G (p.Gly1828=)
NM_024408.4(NOTCH2):c.5542G>A (p.Asp1848Asn)
NM_024408.4(NOTCH2):c.5615A>G (p.Gln1872Arg)
NM_024408.4(NOTCH2):c.5619A>C (p.Thr1873=)
NM_024408.4(NOTCH2):c.5781+10A>C rs369586235
NM_024408.4(NOTCH2):c.5878G>A (p.Val1960Met)
NM_024408.4(NOTCH2):c.5924A>C (p.Asp1975Ala)
NM_024408.4(NOTCH2):c.5975C>T (p.Ala1992Val)
NM_024408.4(NOTCH2):c.6106C>G (p.Arg2036Gly)
NM_024408.4(NOTCH2):c.6156T>C (p.Asp2052=)
NM_024408.4(NOTCH2):c.6273C>T (p.Phe2091=)
NM_024408.4(NOTCH2):c.6403_6404del (p.Leu2135fs) rs1649067817
NM_024408.4(NOTCH2):c.6513A>G (p.Thr2171=)
NM_024408.4(NOTCH2):c.6756T>C (p.Asp2252=)
NM_024408.4(NOTCH2):c.6794A>G (p.Asn2265Ser)
NM_024408.4(NOTCH2):c.6851C>A (p.Pro2284His)
NM_024408.4(NOTCH2):c.6947C>T (p.Ala2316Val)
NM_024408.4(NOTCH2):c.7090C>T (p.Gln2364Ter)
NM_024408.4(NOTCH2):c.7127T>C (p.Phe2376Ser)
NM_024408.4(NOTCH2):c.7159C>A (p.Pro2387Thr)
NM_024408.4(NOTCH2):c.7338G>T (p.Gly2446=)
NM_024408.4(NOTCH2):c.7412C>T (p.Ala2471Val)
NM_024408.4(NOTCH2):c.874+4T>C
NM_024408.4(NOTCH2):c.909G>A (p.Leu303=) rs781969024
NM_024408.4(NOTCH2):c.918C>T (p.Pro306=)

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.