ClinVar Miner

List of variants in gene NOTCH2 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 247
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 1p12-11.2(chr1:120515760-120604038)x3
GRCh37/hg19 1p12-11.2(chr1:120524159-120611245)x1
NM_024408.3(NOTCH2):c.1003T>C (p.Cys335Arg)
NM_024408.3(NOTCH2):c.1017T>C (p.Ile339=) rs1553200135
NM_024408.3(NOTCH2):c.1019A>G (p.Asp340Gly)
NM_024408.3(NOTCH2):c.1021dup (p.Asp341Glyfs) rs1553200134
NM_024408.3(NOTCH2):c.1066C>T (p.Arg356Cys)
NM_024408.3(NOTCH2):c.1134A>G (p.Ala378=) rs782178170
NM_024408.3(NOTCH2):c.1228G>T (p.Ala410Ser) rs370349228
NM_024408.3(NOTCH2):c.1245T>C (p.Asp415=) rs782057759
NM_024408.3(NOTCH2):c.1280G>A (p.Cys427Tyr)
NM_024408.3(NOTCH2):c.1287T>C (p.His429=) rs377469966
NM_024408.3(NOTCH2):c.1313G>A (p.Gly438Asp) rs781957465
NM_024408.3(NOTCH2):c.1465G>T (p.Val489Leu)
NM_024408.3(NOTCH2):c.1543C>G (p.Arg515Gly)
NM_024408.3(NOTCH2):c.1554C>T (p.Cys518=) rs138817140
NM_024408.3(NOTCH2):c.1567+2T>G
NM_024408.3(NOTCH2):c.1567+8C>T rs372367275
NM_024408.3(NOTCH2):c.15C>G (p.Arg5=) rs4021006
NM_024408.3(NOTCH2):c.1625T>G (p.Leu542Arg)
NM_024408.3(NOTCH2):c.1635A>G (p.Ala545=)
NM_024408.3(NOTCH2):c.1653G>A (p.Pro551=) rs187731832
NM_024408.3(NOTCH2):c.1663G>A (p.Glu555Lys) rs1475043862
NM_024408.3(NOTCH2):c.1677C>A (p.Ala559=) rs1553199554
NM_024408.3(NOTCH2):c.1791C>T (p.Pro597=) rs781999109
NM_024408.3(NOTCH2):c.1804G>A (p.Ala602Thr) rs140311741
NM_024408.3(NOTCH2):c.1835dup (p.Tyr612Terfs) rs1553199298
NM_024408.3(NOTCH2):c.1847G>T (p.Cys616Phe) rs1553199297
NM_024408.3(NOTCH2):c.1856A>G (p.Asp619Gly)
NM_024408.3(NOTCH2):c.1861C>T (p.Arg621Cys) rs781827529
NM_024408.3(NOTCH2):c.18del (p.Ala7Leufs)
NM_024408.3(NOTCH2):c.2027-4A>G rs1553198270
NM_024408.3(NOTCH2):c.2055G>A (p.Glu685=)
NM_024408.3(NOTCH2):c.2102T>A (p.Val701Glu)
NM_024408.3(NOTCH2):c.2196A>C (p.Gly732=) rs782101275
NM_024408.3(NOTCH2):c.2323C>G (p.Leu775Val)
NM_024408.3(NOTCH2):c.2366-9T>C
NM_024408.3(NOTCH2):c.2369A>G (p.Tyr790Cys) rs782522898
NM_024408.3(NOTCH2):c.2388T>A (p.Ile796=) rs138943874
NM_024408.3(NOTCH2):c.2452A>G (p.Thr818Ala)
NM_024408.3(NOTCH2):c.2474A>G (p.Tyr825Cys) rs886044849
NM_024408.3(NOTCH2):c.2578T>C (p.Leu860=)
NM_024408.3(NOTCH2):c.2584G>T (p.Ala862Ser) rs782798700
NM_024408.3(NOTCH2):c.2585C>T (p.Ala862Val) rs35656321
NM_024408.3(NOTCH2):c.2606G>A (p.Arg869Gln) rs782269360
NM_024408.3(NOTCH2):c.2677G>A (p.Gly893Ser)
NM_024408.3(NOTCH2):c.2719G>A (p.Asp907Asn)
NM_024408.3(NOTCH2):c.2732A>G (p.Asp911Gly)
NM_024408.3(NOTCH2):c.2752+8T>C
NM_024408.3(NOTCH2):c.2816C>T (p.Pro939Leu)
NM_024408.3(NOTCH2):c.2824A>G (p.Thr942Ala) rs372549390
NM_024408.3(NOTCH2):c.2830G>T (p.Asp944Tyr)
NM_024408.3(NOTCH2):c.2949T>C (p.His983=)
NM_024408.3(NOTCH2):c.2982-2A>G rs1553196358
NM_024408.3(NOTCH2):c.3014G>A (p.Gly1005Glu)
NM_024408.3(NOTCH2):c.3036G>C (p.Leu1012Phe) rs1553196348
NM_024408.3(NOTCH2):c.3046G>A (p.Gly1016Ser) rs782191722
NM_024408.3(NOTCH2):c.3069C>T (p.Leu1023=)
NM_024408.3(NOTCH2):c.306G>A (p.Gln102=) rs1202841553
NM_024408.3(NOTCH2):c.3104T>C (p.Leu1035Pro)
NM_024408.3(NOTCH2):c.3154C>A (p.Pro1052Thr) rs1417119248
NM_024408.3(NOTCH2):c.3198C>G (p.Leu1066=)
NM_024408.3(NOTCH2):c.3205C>A (p.Arg1069=) rs61752485
NM_024408.3(NOTCH2):c.3206G>A (p.Arg1069Gln) rs146014987
NM_024408.3(NOTCH2):c.3235G>A (p.Val1079Ile) rs368918146
NM_024408.3(NOTCH2):c.3246dup (p.Ala1083Serfs) rs1553195973
NM_024408.3(NOTCH2):c.3252G>A (p.Glu1084=)
NM_024408.3(NOTCH2):c.3305A>G (p.Asn1102Ser) rs781872271
NM_024408.3(NOTCH2):c.3388G>A (p.Gly1130Ser) rs782078365
NM_024408.3(NOTCH2):c.3467A>G (p.Asn1156Ser)
NM_024408.3(NOTCH2):c.3492C>T (p.Cys1164=)
NM_024408.3(NOTCH2):c.3520G>A (p.Glu1174Lys) rs782318679
NM_024408.3(NOTCH2):c.3556T>A (p.Tyr1186Asn)
NM_024408.3(NOTCH2):c.358A>C (p.Thr120Pro) rs148915663
NM_024408.3(NOTCH2):c.3625T>G (p.Phe1209Val) rs147223770
NM_024408.3(NOTCH2):c.3657C>A (p.Gly1219=) rs797044688
NM_024408.3(NOTCH2):c.3670G>A (p.Glu1224Lys) rs886044885
NM_024408.3(NOTCH2):c.3700C>T (p.His1234Tyr) rs797044475
NM_024408.3(NOTCH2):c.3702T>C (p.His1234=)
NM_024408.3(NOTCH2):c.3706C>T (p.Leu1236Phe) rs782493421
NM_024408.3(NOTCH2):c.3754T>A (p.Cys1252Ser) rs1553194817
NM_024408.3(NOTCH2):c.3759G>A (p.Leu1253=) rs143045192
NM_024408.3(NOTCH2):c.3789A>C (p.Gly1263=) rs149036937
NM_024408.3(NOTCH2):c.3878G>A (p.Arg1293His) rs201968231
NM_024408.3(NOTCH2):c.3908C>G (p.Thr1303Ser) rs1359085444
NM_024408.3(NOTCH2):c.390G>A (p.Glu130=) rs782723019
NM_024408.3(NOTCH2):c.3916G>A (p.Asp1306Asn)
NM_024408.3(NOTCH2):c.3934C>T (p.Pro1312Ser)
NM_024408.3(NOTCH2):c.3984T>C (p.Gly1328=)
NM_024408.3(NOTCH2):c.4002C>G (p.Pro1334=)
NM_024408.3(NOTCH2):c.4005+1G>A
NM_024408.3(NOTCH2):c.4005+9C>T rs886043601
NM_024408.3(NOTCH2):c.4005G>A (p.Pro1335=)
NM_024408.3(NOTCH2):c.4029G>C (p.Gln1343His) rs1299994808
NM_024408.3(NOTCH2):c.4041A>G (p.Gly1347=) rs753043164
NM_024408.3(NOTCH2):c.4130G>T (p.Gly1377Val) rs758311065
NM_024408.3(NOTCH2):c.4142G>A (p.Ser1381Asn) rs886044453
NM_024408.3(NOTCH2):c.415G>C (p.Gly139Arg) rs1131692007
NM_024408.3(NOTCH2):c.4162A>G (p.Ser1388Gly)
NM_024408.3(NOTCH2):c.4169A>G (p.His1390Arg)
NM_024408.3(NOTCH2):c.4177C>T (p.Arg1393Cys) rs760072707
NM_024408.3(NOTCH2):c.4178G>A (p.Arg1393His) rs587735797
NM_024408.3(NOTCH2):c.4185T>A (p.Pro1395=) rs1553194472
NM_024408.3(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282
NM_024408.3(NOTCH2):c.423G>A (p.Glu141=) rs149906722
NM_024408.3(NOTCH2):c.4244C>T (p.Thr1415Met) rs758275919
NM_024408.3(NOTCH2):c.4294G>A (p.Asp1432Asn)
NM_024408.3(NOTCH2):c.4312G>A (p.Val1438Ile) rs745861610
NM_024408.3(NOTCH2):c.4394A>G (p.Asn1465Ser) rs886044112
NM_024408.3(NOTCH2):c.4457delC (p.Thr1486Argfs) rs1064793660
NM_024408.3(NOTCH2):c.4462G>C (p.Glu1488Gln) rs1131691315
NM_024408.3(NOTCH2):c.4512-9C>T
NM_024408.3(NOTCH2):c.4578G>A (p.Glu1526=)
NM_024408.3(NOTCH2):c.4639C>G (p.Leu1547Val) rs1241715192
NM_024408.3(NOTCH2):c.4699C>T (p.Arg1567Trp) rs552225415
NM_024408.3(NOTCH2):c.4723A>G (p.Thr1575Ala) rs769788569
NM_024408.3(NOTCH2):c.4733G>A (p.Arg1578His)
NM_024408.3(NOTCH2):c.4740G>A (p.Lys1580=) rs367699419
NM_024408.3(NOTCH2):c.4860-3C>T
NM_024408.3(NOTCH2):c.4928C>T (p.Thr1643Met) rs891328437
NM_024408.3(NOTCH2):c.4929G>A (p.Thr1643=) rs587697719
NM_024408.3(NOTCH2):c.4938A>G (p.Ala1646=) rs886042285
NM_024408.3(NOTCH2):c.4945C>T (p.Leu1649Phe)
NM_024408.3(NOTCH2):c.4973C>T (p.Thr1658Ile)
NM_024408.3(NOTCH2):c.4992G>A (p.Val1664=)
NM_024408.3(NOTCH2):c.5074A>G (p.Ile1692Val)
NM_024408.3(NOTCH2):c.5103A>G (p.Lys1701=) rs201233415
NM_024408.3(NOTCH2):c.5123C>T (p.Ser1708Phe) rs761415665
NM_024408.3(NOTCH2):c.5153G>A (p.Arg1718His) rs774915799
NM_024408.3(NOTCH2):c.5156G>A (p.Arg1719Gln) rs587737953
NM_024408.3(NOTCH2):c.5161G>A (p.Ala1721Thr) rs115013051
NM_024408.3(NOTCH2):c.5172C>G (p.His1724Gln)
NM_024408.3(NOTCH2):c.5177G>A (p.Arg1726His)
NM_024408.3(NOTCH2):c.5214-10A>G rs761995764
NM_024408.3(NOTCH2):c.5218C>A (p.Leu1740Ile) rs747138507
NM_024408.3(NOTCH2):c.5274G>A (p.Trp1758Ter) rs1553194093
NM_024408.3(NOTCH2):c.5310+5G>A
NM_024408.3(NOTCH2):c.5314G>A (p.Glu1772Lys) rs587778576
NM_024408.3(NOTCH2):c.5329C>T (p.Leu1777Phe) rs886044556
NM_024408.3(NOTCH2):c.5348C>G (p.Pro1783Arg)
NM_024408.3(NOTCH2):c.5362C>G (p.Pro1788Ala)
NM_024408.3(NOTCH2):c.5407C>T (p.Pro1803Ser)
NM_024408.3(NOTCH2):c.5413C>T (p.Leu1805=) rs886042822
NM_024408.3(NOTCH2):c.5480-7C>T rs368724241
NM_024408.3(NOTCH2):c.5518G>A (p.Gly1840Ser) rs1064796810
NM_024408.3(NOTCH2):c.5630G>T (p.Gly1877Val)
NM_024408.3(NOTCH2):c.5732G>A (p.Arg1911His) rs1216790064
NM_024408.3(NOTCH2):c.5740C>T (p.Leu1914Phe)
NM_024408.3(NOTCH2):c.5781+10A>C rs369586235
NM_024408.3(NOTCH2):c.5782-10C>T
NM_024408.3(NOTCH2):c.5815G>T (p.Ala1939Ser) rs373667418
NM_024408.3(NOTCH2):c.5834C>T (p.Thr1945Ile) rs1553193826
NM_024408.3(NOTCH2):c.5843del (p.Leu1948Argfs)
NM_024408.3(NOTCH2):c.5857C>T (p.Arg1953Cys) rs312262796
NM_024408.3(NOTCH2):c.5858G>A (p.Arg1953His) rs312262797
NM_024408.3(NOTCH2):c.5862G>A (p.Leu1954=)
NM_024408.3(NOTCH2):c.5871G>A (p.Glu1957=) rs587718458
NM_024408.3(NOTCH2):c.5958T>C (p.Ala1986=) rs563486507
NM_024408.3(NOTCH2):c.5959G>T (p.Val1987Phe) rs1553193743
NM_024408.3(NOTCH2):c.5977A>G (p.Thr1993Ala) rs779769077
NM_024408.3(NOTCH2):c.6004A>G (p.Asn2002Asp)
NM_024408.3(NOTCH2):c.6007C>T (p.Arg2003Ter) rs312262801
NM_024408.3(NOTCH2):c.6026A>G (p.Lys2009Arg)
NM_024408.3(NOTCH2):c.6027+10G>T rs774867522
NM_024408.3(NOTCH2):c.6027G>A (p.Lys2009=)
NM_024408.3(NOTCH2):c.6028-4G>A rs372465730
NM_024408.3(NOTCH2):c.6042G>C (p.Leu2014=)
NM_024408.3(NOTCH2):c.6052G>T (p.Ala2018Ser) rs886044278
NM_024408.3(NOTCH2):c.6056G>A (p.Arg2019Gln) rs201446896
NM_024408.3(NOTCH2):c.6103A>C (p.Asn2035His) rs745697811
NM_024408.3(NOTCH2):c.6104A>G (p.Asn2035Ser) rs756949183
NM_024408.3(NOTCH2):c.6118G>A (p.Asp2040Asn) rs748876258
NM_024408.3(NOTCH2):c.6124A>G (p.Met2042Val)
NM_024408.3(NOTCH2):c.6139C>G (p.Arg2047Gly)
NM_024408.3(NOTCH2):c.6140G>A (p.Arg2047Gln)
NM_024408.3(NOTCH2):c.6152G>A (p.Arg2051Gln) rs192122939
NM_024408.3(NOTCH2):c.6152G>C (p.Arg2051Pro)
NM_024408.3(NOTCH2):c.6159C>T (p.Arg2053=) rs143282787
NM_024408.3(NOTCH2):c.6182T>C (p.Leu2061Pro) rs1553193616
NM_024408.3(NOTCH2):c.6222C>T (p.Thr2074=)
NM_024408.3(NOTCH2):c.6223G>A (p.Val2075Met) rs150516342
NM_024408.3(NOTCH2):c.6251T>A (p.Ile2084Asn) rs757880322
NM_024408.3(NOTCH2):c.6270T>G (p.Ser2090=)
NM_024408.3(NOTCH2):c.6307T>A (p.Ser2103Thr)
NM_024408.3(NOTCH2):c.6338C>T (p.Pro2113Leu) rs767621140
NM_024408.3(NOTCH2):c.6344G>A (p.Ser2115Asn)
NM_024408.3(NOTCH2):c.6345C>T (p.Ser2115=)
NM_024408.3(NOTCH2):c.6362A>G (p.Lys2121Arg) rs148393324
NM_024408.3(NOTCH2):c.6363G>C (p.Lys2121Asn) rs144047610
NM_024408.3(NOTCH2):c.6412A>G (p.Lys2138Glu)
NM_024408.3(NOTCH2):c.6424_6427delTCTG (p.Ser2142Argfs) rs1064793515
NM_024408.3(NOTCH2):c.6464A>C (p.Glu2155Ala) rs886043600
NM_024408.3(NOTCH2):c.6477G>A (p.Thr2159=) rs145566650
NM_024408.3(NOTCH2):c.6481G>A (p.Val2161Ile)
NM_024408.3(NOTCH2):c.6496T>C (p.Ser2166Pro) rs886042848
NM_024408.3(NOTCH2):c.6547A>G (p.Met2183Val)
NM_024408.3(NOTCH2):c.6562G>A (p.Ala2188Thr)
NM_024408.3(NOTCH2):c.660C>A (p.Ser220Arg) rs112650847
NM_024408.3(NOTCH2):c.6659C>G (p.Ser2220Ter) rs886041979
NM_024408.3(NOTCH2):c.6673C>T (p.Leu2225=)
NM_024408.3(NOTCH2):c.6685C>T (p.His2229Tyr)
NM_024408.3(NOTCH2):c.6703A>G (p.Ser2235Gly) rs886044626
NM_024408.3(NOTCH2):c.6758G>A (p.Trp2253Ter) rs1553193524
NM_024408.3(NOTCH2):c.6766C>T (p.Arg2256Cys) rs147522485
NM_024408.3(NOTCH2):c.6767G>A (p.Arg2256His) rs148759277
NM_024408.3(NOTCH2):c.6787C>T (p.Gln2263Ter) rs886041862
NM_024408.3(NOTCH2):c.6808A>G (p.Met2270Val) rs145628676
NM_024408.3(NOTCH2):c.6837T>A (p.His2279Gln) rs886044699
NM_024408.3(NOTCH2):c.6837T>C (p.His2279=) rs886044699
NM_024408.3(NOTCH2):c.6859A>T (p.Arg2287Trp) rs1430185090
NM_024408.3(NOTCH2):c.6893G>A (p.Arg2298Gln) rs140832430
NM_024408.3(NOTCH2):c.6921C>T (p.Phe2307=) rs886043678
NM_024408.3(NOTCH2):c.6956C>T (p.Ala2319Val) rs373527990
NM_024408.3(NOTCH2):c.6957G>A (p.Ala2319=) rs369891453
NM_024408.3(NOTCH2):c.6962C>T (p.Ala2321Val)
NM_024408.3(NOTCH2):c.6979A>G (p.Thr2327Ala) rs587778578
NM_024408.3(NOTCH2):c.6985C>T (p.Pro2329Ser)
NM_024408.3(NOTCH2):c.6997G>A (p.Ala2333Thr) rs143506822
NM_024408.3(NOTCH2):c.6999G>A (p.Ala2333=) rs760004891
NM_024408.3(NOTCH2):c.7072A>G (p.Met2358Val)
NM_024408.3(NOTCH2):c.7174T>C (p.Tyr2392His) rs778456880
NM_024408.3(NOTCH2):c.7199G>A (p.Arg2400Gln) rs587654671
NM_024408.3(NOTCH2):c.7224C>G (p.Leu2408=) rs147795348
NM_024408.3(NOTCH2):c.7263T>A (p.Ser2421=) rs369912969
NM_024408.3(NOTCH2):c.7288C>T (p.Pro2430Ser)
NM_024408.3(NOTCH2):c.7338G>A (p.Gly2446=)
NM_024408.3(NOTCH2):c.7342G>T (p.Ala2448Ser)
NM_024408.3(NOTCH2):c.7356G>C (p.Gln2452His) rs1352825600
NM_024408.3(NOTCH2):c.7368G>A (p.Gly2456=) rs759456867
NM_024408.3(NOTCH2):c.7397_7399del (p.Asn2466del)
NM_024408.3(NOTCH2):c.7413G>A (p.Ala2471=) rs771638958
NM_024408.3(NOTCH2):c.7416A>C (p.Ter2472Cys)
NM_024408.3(NOTCH2):c.760G>T (p.Gly254Trp)
NM_024408.3(NOTCH2):c.782T>G (p.Ile261Ser)
NM_024408.3(NOTCH2):c.786T>C (p.Asp262=)
NM_024408.3(NOTCH2):c.801C>A (p.His267Gln) rs1553202301
NM_024408.3(NOTCH2):c.815G>A (p.Gly272Glu)
NM_024408.3(NOTCH2):c.822T>G (p.Val274=)
NM_024408.3(NOTCH2):c.875-9C>G rs1324363153
NM_024408.3(NOTCH2):c.956A>G (p.Asn319Ser) rs144936899
NM_024408.3(NOTCH2):c.965A>G (p.Tyr322Cys)
NM_024408.3(NOTCH2):c.975A>G (p.Val325=) rs886044854
NM_024408.4(NOTCH2):c.1041del (p.Cys347Terfs)
NM_024408.4(NOTCH2):c.3415dup (p.Leu1139Profs)
NM_024408.4(NOTCH2):c.5664dup (p.Arg1889Thrfs)
NM_024408.4(NOTCH2):c.5731C>T (p.Arg1911Cys)
NM_024408.4(NOTCH2):c.752-12_752-10del

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