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: 457
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HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.1108+30A>G rs2493409 0.97622
NM_024408.4(NOTCH2):c.3183+271T>G rs4274109 0.97618
NM_024408.4(NOTCH2):c.3337+86A>G rs2453057 0.97605
NM_024408.4(NOTCH2):c.3892+175G>A rs2493393 0.97605
NM_024408.4(NOTCH2):c.3523-58A>G rs5025718 0.65855
NM_024408.4(NOTCH2):c.5311-210G>A rs835574 0.34505
NM_024408.4(NOTCH2):c.1567+196A>G rs2493410 0.31756
NM_024408.4(NOTCH2):c.4859+152C>T rs2793830 0.31554
NM_024408.4(NOTCH2):c.1568-335T>C rs2453044 0.22723
NM_024408.4(NOTCH2):c.2753-44C>T rs2493420 0.22074
NM_024408.4(NOTCH2):c.5310+171G>A rs835573 0.22065
NM_024408.4(NOTCH2):c.415+257T>C rs2596065 0.21000
NM_024408.4(NOTCH2):c.3655+97G>T rs2453056 0.18120
NM_024408.4(NOTCH2):c.7341T>A (p.Gly2447=) rs6685892 0.17147
NM_024408.4(NOTCH2):c.3184-76G>A rs2453058 0.17132
NM_024408.4(NOTCH2):c.3656-22G>A rs2493392 0.17120
NM_024408.4(NOTCH2):c.1915+89C>T rs2934381 0.17105
NM_024408.4(NOTCH2):c.5782-77G>A rs2793829 0.17093
NM_024408.4(NOTCH2):c.2365+47T>A rs7534585 0.17014
NM_024408.4(NOTCH2):c.2365+39T>G rs7534586 0.17007
NM_024408.4(NOTCH2):c.4005+45A>G rs17258579 0.10623
NM_024408.4(NOTCH2):c.5930-249T>C rs3897840 0.08755
NM_024408.4(NOTCH2):c.2026+251A>G rs7553305 0.06768
NM_024408.4(NOTCH2):c.3234C>T (p.Cys1078=) rs7543643 0.06759
NM_024408.4(NOTCH2):c.4860-183T>A rs17024519 0.04913
NM_024408.4(NOTCH2):c.5311-24G>A rs41306195 0.04756
NM_024408.4(NOTCH2):c.3523-125A>C rs17024536 0.04670
NM_024408.4(NOTCH2):c.2026+303T>C rs17024564 0.04669
NM_024408.4(NOTCH2):c.1915+165C>T rs17024577 0.04667
NM_024408.4(NOTCH2):c.5480-232G>A rs56342935 0.04664
NM_024408.4(NOTCH2):c.-23C>A rs57122008 0.04253
NM_024408.4(NOTCH2):c.2480-246G>T rs75023863 0.03994
NM_024408.4(NOTCH2):c.4512-147C>G rs17024521 0.03729
NM_024408.4(NOTCH2):c.6028-116C>T rs41277624 0.03531
NM_024408.4(NOTCH2):c.4511+52C>T rs41302079 0.03499
NM_024408.4(NOTCH2):c.-214C>G rs782173943 0.03173
NM_024408.4(NOTCH2):c.2982-118A>G rs77938086 0.02780
NM_024408.4(NOTCH2):c.939C>T (p.Gly313=) rs7533978 0.02663
NM_024408.4(NOTCH2):c.5929+113T>G rs10494233 0.02148
NM_024408.4(NOTCH2):c.6421C>T (p.Leu2141=) rs3795666 0.02137
NM_024408.4(NOTCH2):c.3183+288G>A rs112932691 0.02010
NM_024408.4(NOTCH2):c.875-166G>C rs60615590 0.01388
NM_024408.4(NOTCH2):c.2599+12G>C rs74117573 0.01309
NM_024408.4(NOTCH2):c.4860-280G>A rs17258565 0.01249
NM_024408.4(NOTCH2):c.5310+195T>G rs3850868 0.01232
NM_024408.4(NOTCH2):c.4006-54A>G rs6658796 0.01227
NM_024408.4(NOTCH2):c.4305G>A (p.Arg1435=) rs6692009 0.01225
NM_024408.4(NOTCH2):c.2753-128C>T rs75324530 0.01082
NM_024408.4(NOTCH2):c.4014C>T (p.Ser1338=) rs17024525 0.00984
NM_024408.4(NOTCH2):c.272G>T (p.Arg91Leu) rs143195893 0.00899
NM_024408.4(NOTCH2):c.874+312C>T rs2453041 0.00894
NM_024408.4(NOTCH2):c.3117G>A (p.Thr1039=) rs36084504 0.00817
NM_024408.4(NOTCH2):c.74-215C>T rs587747605 0.00805
NM_024408.4(NOTCH2):c.4311C>T (p.Gly1437=) rs34561092 0.00733
NM_024408.4(NOTCH2):c.155+50A>G rs782139262 0.00633
NM_024408.4(NOTCH2):c.1453+67C>G rs144716627 0.00600
NM_024408.4(NOTCH2):c.456C>T (p.Pro152=) rs143287927 0.00531
NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala) rs75831573 0.00493
NM_024408.4(NOTCH2):c.3980A>G (p.Asp1327Gly) rs61752484 0.00477
NM_024408.4(NOTCH2):c.5214-49A>G rs143658192 0.00418
NM_024408.4(NOTCH2):c.435G>A (p.Thr145=) rs1615676 0.00405
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282 0.00375
NM_024408.4(NOTCH2):c.1567+12C>T rs78223268 0.00306
NM_024408.4(NOTCH2):c.2585C>T (p.Ala862Val) rs35656321 0.00266
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val) rs147223770 0.00258
NM_024408.4(NOTCH2):c.3519C>T (p.Cys1173=) rs115325955 0.00245
NM_024408.4(NOTCH2):c.7042T>C (p.Leu2348=) rs61734328 0.00241
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
NM_024408.4(NOTCH2):c.7G>T (p.Ala3Ser) rs782113557 0.00218
NM_024408.4(NOTCH2):c.415+43G>T rs200812134 0.00211
NM_024408.4(NOTCH2):c.-31G>C rs782424628 0.00203
NM_024408.4(NOTCH2):c.1568-17C>T rs373665797 0.00198
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.1108+14G>A rs377649578 0.00098
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.2981+11A>G rs148899572 0.00063
NM_024408.4(NOTCH2):c.423G>A (p.Glu141=) rs149906722 0.00058
NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys) rs147522485 0.00056
NM_024408.4(NOTCH2):c.1109-26T>G rs137866235 0.00055
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.3235G>A (p.Val1079Ile) rs368918146 0.00050
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn) rs144047610 0.00050
NM_024408.4(NOTCH2):c.5479+46A>G rs200559571 0.00048
NM_024408.4(NOTCH2):c.1396C>A (p.Gln466Lys) rs141935585 0.00047
NM_024408.4(NOTCH2):c.2479+34G>A rs368529597 0.00047
NM_024408.4(NOTCH2):c.3655+54A>G rs587664838 0.00047
NM_024408.4(NOTCH2):c.358A>C (p.Thr120Pro) rs148915663 0.00043
NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr) rs140311741 0.00039
NM_024408.4(NOTCH2):c.3779G>A (p.Arg1260His) rs75423398 0.00036
NM_024408.4(NOTCH2):c.4973C>T (p.Thr1658Ile) rs142462128 0.00034
NM_024408.4(NOTCH2):c.2042T>A (p.Ile681Asn) rs74882029 0.00026
NM_024408.4(NOTCH2):c.1287T>C (p.His429=) rs377469966 0.00024
NM_024408.4(NOTCH2):c.5103A>G (p.Lys1701=) rs201233415 0.00023
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.3913G>A (p.Val1305Ile) rs587688280 0.00017
NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln) rs140832430 0.00016
NM_024408.4(NOTCH2):c.1635A>G (p.Ala545=) rs193116983 0.00015
NM_024408.4(NOTCH2):c.3479A>G (p.His1160Arg) rs142876168 0.00015
NM_024408.4(NOTCH2):c.2824A>G (p.Thr942Ala) rs372549390 0.00014
NM_024408.4(NOTCH2):c.3014G>A (p.Gly1005Glu) rs782036233 0.00014
NM_024408.4(NOTCH2):c.4113C>G (p.Pro1371=) rs141657857 0.00014
NM_024408.4(NOTCH2):c.5480-25T>C rs74771463 0.00014
NM_024408.4(NOTCH2):c.1228G>T (p.Ala410Ser) rs370349228 0.00013
NM_024408.4(NOTCH2):c.4929G>A (p.Thr1643=) rs587697719 0.00013
NM_024408.4(NOTCH2):c.5815G>T (p.Ala1939Ser) rs373667418 0.00013
NM_024408.4(NOTCH2):c.6362A>G (p.Lys2121Arg) rs148393324 0.00013
NM_024408.4(NOTCH2):c.5871G>A (p.Glu1957=) rs587718458 0.00012
NM_024408.4(NOTCH2):c.786T>C (p.Asp262=) rs374224226 0.00012
NM_024408.4(NOTCH2):c.4114C>T (p.Arg1372Trp) rs587778575 0.00011
NM_024408.4(NOTCH2):c.5276T>C (p.Val1759Ala) rs373166152 0.00011
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.3916G>A (p.Asp1306Asn) rs116408209 0.00010
NM_024408.4(NOTCH2):c.1554C>T (p.Cys518=) rs138817140 0.00009
NM_024408.4(NOTCH2):c.3878G>A (p.Arg1293His) rs201968231 0.00009
NM_024408.4(NOTCH2):c.4860-37A>C rs201778348 0.00009
NM_024408.4(NOTCH2):c.6477G>A (p.Thr2159=) rs145566650 0.00009
NM_024408.4(NOTCH2):c.1315G>A (p.Ala439Thr) rs199565938 0.00008
NM_024408.4(NOTCH2):c.4041A>G (p.Gly1347=) rs753043164 0.00008
NM_024408.4(NOTCH2):c.4860-3C>T rs752354633 0.00007
NM_024408.4(NOTCH2):c.6159C>T (p.Arg2053=) rs143282787 0.00007
NM_024408.4(NOTCH2):c.2366-9T>C rs368664174 0.00006
NM_024408.4(NOTCH2):c.3305A>G (p.Asn1102Ser) rs781872271 0.00006
NM_024408.4(NOTCH2):c.3702T>C (p.His1234=) rs376503331 0.00006
NM_024408.4(NOTCH2):c.4155C>T (p.His1385=) rs764948417 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.5314G>A (p.Glu1772Lys) rs587778576 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.4699C>T (p.Arg1567Trp) rs552225415 0.00005
NM_024408.4(NOTCH2):c.5480-7C>T rs368724241 0.00005
NM_024408.4(NOTCH2):c.6140G>A (p.Arg2047Gln) rs371060516 0.00005
NM_024408.4(NOTCH2):c.6338C>T (p.Pro2113Leu) rs767621140 0.00005
NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala) rs587778578 0.00005
NM_024408.4(NOTCH2):c.3759G>A (p.Leu1253=) rs143045192 0.00004
NM_024408.4(NOTCH2):c.4142G>A (p.Ser1381Asn) rs886044453 0.00004
NM_024408.4(NOTCH2):c.4294G>A (p.Asp1432Asn) rs145336945 0.00004
NM_024408.4(NOTCH2):c.4740G>A (p.Lys1580=) rs367699419 0.00004
NM_024408.4(NOTCH2):c.5218C>A (p.Leu1740Ile) rs747138507 0.00004
NM_024408.4(NOTCH2):c.5624G>A (p.Arg1875Gln) rs148613210 0.00004
NM_024408.4(NOTCH2):c.5958T>C (p.Ala1986=) rs563486507 0.00004
NM_024408.4(NOTCH2):c.5977A>G (p.Thr1993Ala) rs779769077 0.00004
NM_024408.4(NOTCH2):c.6056G>A (p.Arg2019Gln) rs201446896 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.7288C>T (p.Pro2430Ser) rs141961602 0.00004
NM_024408.4(NOTCH2):c.875-9C>G rs1324363153 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.3467A>G (p.Asn1156Ser) rs782760871 0.00003
NM_024408.4(NOTCH2):c.3556T>A (p.Tyr1186Asn) rs377058108 0.00003
NM_024408.4(NOTCH2):c.4005G>A (p.Pro1335=) rs118188023 0.00003
NM_024408.4(NOTCH2):c.4029G>C (p.Gln1343His) rs1299994808 0.00003
NM_024408.4(NOTCH2):c.4512-9C>T rs762427299 0.00003
NM_024408.4(NOTCH2):c.4688G>A (p.Arg1563His) rs767706572 0.00003
NM_024408.4(NOTCH2):c.4723A>G (p.Thr1575Ala) rs769788569 0.00003
NM_024408.4(NOTCH2):c.6028-4G>A rs372465730 0.00003
NM_024408.4(NOTCH2):c.6103A>C (p.Asn2035His) rs745697811 0.00003
NM_024408.4(NOTCH2):c.6307T>A (p.Ser2103Thr) rs779311707 0.00003
NM_024408.4(NOTCH2):c.6547A>G (p.Met2183Val) rs748538625 0.00003
NM_024408.4(NOTCH2):c.6808A>G (p.Met2270Val) rs145628676 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.6999G>A (p.Ala2333=) rs760004891 0.00003
NM_024408.4(NOTCH2):c.7342G>T (p.Ala2448Ser) rs764210725 0.00003
NM_024408.4(NOTCH2):c.1653G>A (p.Pro551=) rs187731832 0.00002
NM_024408.4(NOTCH2):c.2606G>A (p.Arg869Gln) rs782269360 0.00002
NM_024408.4(NOTCH2):c.3046G>A (p.Gly1016Ser) rs782191722 0.00002
NM_024408.4(NOTCH2):c.390G>A (p.Glu130=) rs782723019 0.00002
NM_024408.4(NOTCH2):c.4002C>G (p.Pro1334=) rs1390174762 0.00002
NM_024408.4(NOTCH2):c.4639C>G (p.Leu1547Val) rs1241715192 0.00002
NM_024408.4(NOTCH2):c.4945C>T (p.Leu1649Phe) rs769177875 0.00002
NM_024408.4(NOTCH2):c.5123C>T (p.Ser1708Phe) rs761415665 0.00002
NM_024408.4(NOTCH2):c.5156G>A (p.Arg1719Gln) rs587737953 0.00002
NM_024408.4(NOTCH2):c.5731C>T (p.Arg1911Cys) rs748716440 0.00002
NM_024408.4(NOTCH2):c.6004A>G (p.Asn2002Asp) rs761367735 0.00002
NM_024408.4(NOTCH2):c.6178C>T (p.Arg2060Cys) rs746551843 0.00002
NM_024408.4(NOTCH2):c.6481G>A (p.Val2161Ile) rs1470762283 0.00002
NM_024408.4(NOTCH2):c.6924G>A (p.Gln2308=) rs376191548 0.00002
NM_024408.4(NOTCH2):c.85C>T (p.Arg29Ter) rs1174406807 0.00002
NM_024408.4(NOTCH2):c.1032C>T (p.Phe344=) rs782702694 0.00001
NM_024408.4(NOTCH2):c.1134A>G (p.Ala378=) rs782178170 0.00001
NM_024408.4(NOTCH2):c.1245T>C (p.Asp415=) rs782057759 0.00001
NM_024408.4(NOTCH2):c.1465G>T (p.Val489Leu) rs1553199690 0.00001
NM_024408.4(NOTCH2):c.1791C>T (p.Pro597=) rs781999109 0.00001
NM_024408.4(NOTCH2):c.1861C>T (p.Arg621Cys) rs781827529 0.00001
NM_024408.4(NOTCH2):c.2026+6G>T rs587731563 0.00001
NM_024408.4(NOTCH2):c.2323C>G (p.Leu775Val) rs1230128244 0.00001
NM_024408.4(NOTCH2):c.2369A>G (p.Tyr790Cys) rs782522898 0.00001
NM_024408.4(NOTCH2):c.2474A>G (p.Tyr825Cys) rs886044849 0.00001
NM_024408.4(NOTCH2):c.2480-49C>T rs374826343 0.00001
NM_024408.4(NOTCH2):c.2578T>C (p.Leu860=) rs200524116 0.00001
NM_024408.4(NOTCH2):c.2993A>G (p.Asn998Ser) rs782277113 0.00001
NM_024408.4(NOTCH2):c.3252G>A (p.Glu1084=) rs372751663 0.00001
NM_024408.4(NOTCH2):c.3388G>A (p.Gly1130Ser) rs782078365 0.00001
NM_024408.4(NOTCH2):c.3441G>A (p.Glu1147=) rs371875533 0.00001
NM_024408.4(NOTCH2):c.3492C>T (p.Cys1164=) rs782024051 0.00001
NM_024408.4(NOTCH2):c.3520G>A (p.Glu1174Lys) rs782318679 0.00001
NM_024408.4(NOTCH2):c.3700C>T (p.His1234Tyr) rs797044475 0.00001
NM_024408.4(NOTCH2):c.3908C>G (p.Thr1303Ser) rs1359085444 0.00001
NM_024408.4(NOTCH2):c.3984T>C (p.Gly1328=) rs375142978 0.00001
NM_024408.4(NOTCH2):c.4177C>T (p.Arg1393Cys) rs760072707 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.4457C>T (p.Thr1486Met) rs762374093 0.00001
NM_024408.4(NOTCH2):c.4733G>A (p.Arg1578His) rs751299682 0.00001
NM_024408.4(NOTCH2):c.4928C>T (p.Thr1643Met) rs891328437 0.00001
NM_024408.4(NOTCH2):c.4992G>A (p.Val1664=) rs587748556 0.00001
NM_024408.4(NOTCH2):c.5153G>A (p.Arg1718His) rs774915799 0.00001
NM_024408.4(NOTCH2):c.5214-10A>G rs761995764 0.00001
NM_024408.4(NOTCH2):c.5329C>T (p.Leu1777Phe) rs886044556 0.00001
NM_024408.4(NOTCH2):c.5732G>A (p.Arg1911His) rs1216790064 0.00001
NM_024408.4(NOTCH2):c.5782-10C>T rs1220746088 0.00001
NM_024408.4(NOTCH2):c.5862G>A (p.Leu1954=) rs746117178 0.00001
NM_024408.4(NOTCH2):c.6027+47C>A rs375910689 0.00001
NM_024408.4(NOTCH2):c.6052G>T (p.Ala2018Ser) rs886044278 0.00001
NM_024408.4(NOTCH2):c.6124A>G (p.Met2042Val) rs1244625283 0.00001
NM_024408.4(NOTCH2):c.6222C>T (p.Thr2074=) rs764335447 0.00001
NM_024408.4(NOTCH2):c.6251T>A (p.Ile2084Asn) rs757880322 0.00001
NM_024408.4(NOTCH2):c.6270T>G (p.Ser2090=) rs747743815 0.00001
NM_024408.4(NOTCH2):c.6345C>T (p.Ser2115=) rs369254585 0.00001
NM_024408.4(NOTCH2):c.6562G>A (p.Ala2188Thr) rs139052054 0.00001
NM_024408.4(NOTCH2):c.6673C>T (p.Leu2225=) rs1314464356 0.00001
NM_024408.4(NOTCH2):c.6837T>A (p.His2279Gln) rs886044699 0.00001
NM_024408.4(NOTCH2):c.6859A>T (p.Arg2287Trp) rs1430185090 0.00001
NM_024408.4(NOTCH2):c.686C>A (p.Pro229His) rs781850215 0.00001
NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter) rs1325403451 0.00001
NM_024408.4(NOTCH2):c.7199G>A (p.Arg2400Gln) rs587654671 0.00001
NM_024408.4(NOTCH2):c.7368G>A (p.Gly2456=) rs759456867 0.00001
NM_024408.4(NOTCH2):c.760G>T (p.Gly254Trp) rs1553202314 0.00001
NM_024408.4(NOTCH2):c.822T>G (p.Val274=) rs782642000 0.00001
NM_024408.4(NOTCH2):c.975A>G (p.Val325=) rs886044854 0.00001
GRCh37/hg19 1p12-11.2(chr1:120515760-120604038)x3
GRCh37/hg19 1p12-11.2(chr1:120524159-120611245)x1
GRCh37/hg19 1p12-11.2(chr1:120546301-120608823)x1
NC_000001.11:g.120069683C>A rs11487653
NC_000001.11:g.120069858C>A rs868940860
NM_024408.4(NOTCH2):c.1003T>C (p.Cys335Arg) rs1557826752
NM_024408.4(NOTCH2):c.1017T>C (p.Ile339=) rs1553200135
NM_024408.4(NOTCH2):c.1019A>G (p.Asp340Gly) rs1557826735
NM_024408.4(NOTCH2):c.1021dup (p.Asp341fs) rs1553200134
NM_024408.4(NOTCH2):c.1041del (p.Ser346_Cys347insTer) rs1557826721
NM_024408.4(NOTCH2):c.1066C>T (p.Arg356Cys) rs782349821
NM_024408.4(NOTCH2):c.1072G>T (p.Ala358Ser)
NM_024408.4(NOTCH2):c.1079_1081del (p.Phe360del) rs1570701950
NM_024408.4(NOTCH2):c.1132G>A (p.Ala378Thr)
NM_024408.4(NOTCH2):c.1184T>A (p.Leu395Gln)
NM_024408.4(NOTCH2):c.1238C>T (p.Thr413Ile)
NM_024408.4(NOTCH2):c.1280G>A (p.Cys427Tyr) rs1557825800
NM_024408.4(NOTCH2):c.1313G>A (p.Gly438Asp) rs781957465
NM_024408.4(NOTCH2):c.1318T>A (p.Phe440Ile)
NM_024408.4(NOTCH2):c.1436C>T (p.Thr479Ile) rs2101143667
NM_024408.4(NOTCH2):c.144A>G (p.Thr48=)
NM_024408.4(NOTCH2):c.1543C>G (p.Arg515Gly) rs782444829
NM_024408.4(NOTCH2):c.1544G>A (p.Arg515His)
NM_024408.4(NOTCH2):c.1567+2T>G rs1557825245
NM_024408.4(NOTCH2):c.15C>G (p.Arg5=) rs4021006
NM_024408.4(NOTCH2):c.1625T>G (p.Leu542Arg) rs1557824882
NM_024408.4(NOTCH2):c.1663G>A (p.Glu555Lys) rs1475043862
NM_024408.4(NOTCH2):c.1677C>A (p.Ala559=) rs1553199554
NM_024408.4(NOTCH2):c.1775C>A (p.Thr592Asn) rs1651030166
NM_024408.4(NOTCH2):c.1823T>C (p.Ile608Thr)
NM_024408.4(NOTCH2):c.1835dup (p.Tyr612Ter) rs1553199298
NM_024408.4(NOTCH2):c.1847G>T (p.Cys616Phe) rs1553199297
NM_024408.4(NOTCH2):c.1856A>G (p.Asp619Gly) rs1557824123
NM_024408.4(NOTCH2):c.18del (p.Ala7fs) rs372504208
NM_024408.4(NOTCH2):c.1915+201C>G rs10923929
NM_024408.4(NOTCH2):c.2027-231C>G rs4659250
NM_024408.4(NOTCH2):c.2027-4A>G rs1553198270
NM_024408.4(NOTCH2):c.203G>A (p.Cys68Tyr)
NM_024408.4(NOTCH2):c.2055G>A (p.Glu685=) rs1557820492
NM_024408.4(NOTCH2):c.2102T>A (p.Val701Glu) rs1557820445
NM_024408.4(NOTCH2):c.2226G>A (p.Lys742=) rs1570688503
NM_024408.4(NOTCH2):c.2238T>G (p.Asp746Glu)
NM_024408.4(NOTCH2):c.2345C>T (p.Thr782Ile)
NM_024408.4(NOTCH2):c.2365+216_2365+217dup rs10695258
NM_024408.4(NOTCH2):c.2365+216_2365+218dup rs10695258
NM_024408.4(NOTCH2):c.2365+216dup rs10695258
NM_024408.4(NOTCH2):c.2365+229del rs10695258
NM_024408.4(NOTCH2):c.2365+232C>G rs2453055
NM_024408.4(NOTCH2):c.2399C>T (p.Ala800Val)
NM_024408.4(NOTCH2):c.2451C>T (p.Tyr817=)
NM_024408.4(NOTCH2):c.2452A>G (p.Thr818Ala) rs1448849716
NM_024408.4(NOTCH2):c.2479+230A>C
NM_024408.4(NOTCH2):c.2480-188dup rs199631705
NM_024408.4(NOTCH2):c.2480-257G>A rs183533563
NM_024408.4(NOTCH2):c.2480-278dup rs1175930294
NM_024408.4(NOTCH2):c.2584G>T (p.Ala862Ser) rs782798700
NM_024408.4(NOTCH2):c.2597A>T (p.Gln866Leu) rs2101115501
NM_024408.4(NOTCH2):c.2641C>A (p.Pro881Thr)
NM_024408.4(NOTCH2):c.2677G>A (p.Gly893Ser) rs782108690
NM_024408.4(NOTCH2):c.2719G>A (p.Asp907Asn) rs1557817079
NM_024408.4(NOTCH2):c.2732A>G (p.Asp911Gly) rs1557817072
NM_024408.4(NOTCH2):c.2752+8T>C rs587621243
NM_024408.4(NOTCH2):c.2796T>G (p.Thr932=)
NM_024408.4(NOTCH2):c.2949T>C (p.His983=) rs1557814141
NM_024408.4(NOTCH2):c.2981+133_2981+135del rs112156947
NM_024408.4(NOTCH2):c.2982-2A>G rs1553196358
NM_024408.4(NOTCH2):c.3036G>C (p.Leu1012Phe) rs1553196348
NM_024408.4(NOTCH2):c.3069C>T (p.Leu1023=) rs1557813791
NM_024408.4(NOTCH2):c.306G>A (p.Gln102=) rs1202841553
NM_024408.4(NOTCH2):c.3104T>C (p.Leu1035Pro) rs1038706033
NM_024408.4(NOTCH2):c.312A>G (p.Ser104=) rs2793999
NM_024408.4(NOTCH2):c.3144C>T (p.Arg1048=)
NM_024408.4(NOTCH2):c.3154C>A (p.Pro1052Thr) rs1417119248
NM_024408.4(NOTCH2):c.3198C>G (p.Leu1066=) rs782491901
NM_024408.4(NOTCH2):c.3205C>A (p.Arg1069=) rs61752485
NM_024408.4(NOTCH2):c.3222C>T (p.Asn1074=) rs1570674390
NM_024408.4(NOTCH2):c.3246dup (p.Ala1083fs) rs1553195973
NM_024408.4(NOTCH2):c.3319A>G (p.Ile1107Val) rs781824405
NM_024408.4(NOTCH2):c.3415dup (p.Leu1139fs) rs1557812162
NM_024408.4(NOTCH2):c.3467A>C (p.Asn1156Thr)
NM_024408.4(NOTCH2):c.3523-5G>A
NM_024408.4(NOTCH2):c.3657C>A (p.Gly1219=) rs797044688
NM_024408.4(NOTCH2):c.3670G>A (p.Glu1224Lys) rs886044885
NM_024408.4(NOTCH2):c.3692G>C (p.Arg1231Pro)
NM_024408.4(NOTCH2):c.3706C>T (p.Leu1236Phe) rs782493421
NM_024408.4(NOTCH2):c.3754T>A (p.Cys1252Ser) rs1553194817
NM_024408.4(NOTCH2):c.3789A>C (p.Gly1263=) rs149036937
NM_024408.4(NOTCH2):c.3890C>T (p.Thr1297Ile)
NM_024408.4(NOTCH2):c.3934C>T (p.Pro1312Ser) rs1557807220
NM_024408.4(NOTCH2):c.3978T>G (p.Pro1326=)
NM_024408.4(NOTCH2):c.3G>C (p.Met1Ile) rs56159748
NM_024408.4(NOTCH2):c.4005+1G>A rs1557807153
NM_024408.4(NOTCH2):c.4005+9C>T rs886043601
NM_024408.4(NOTCH2):c.4077C>T (p.His1359=)
NM_024408.4(NOTCH2):c.4094G>A (p.Arg1365His)
NM_024408.4(NOTCH2):c.4130G>T (p.Gly1377Val) rs758311065
NM_024408.4(NOTCH2):c.415G>C (p.Gly139Arg) rs1131692007
NM_024408.4(NOTCH2):c.4162A>G (p.Ser1388Gly) rs1557806739
NM_024408.4(NOTCH2):c.4185T>A (p.Pro1395=) rs1553194472
NM_024408.4(NOTCH2):c.434C>T (p.Thr145Met)
NM_024408.4(NOTCH2):c.4394A>G (p.Asn1465Ser) rs886044112
NM_024408.4(NOTCH2):c.4421A>T (p.Asp1474Val) rs2101161814
NM_024408.4(NOTCH2):c.4457del (p.Thr1486fs) rs1064793660
NM_024408.4(NOTCH2):c.4462G>A (p.Glu1488Lys)
NM_024408.4(NOTCH2):c.4462G>C (p.Glu1488Gln) rs1131691315
NM_024408.4(NOTCH2):c.4578G>A (p.Glu1526=) rs769513920
NM_024408.4(NOTCH2):c.4675C>G (p.Leu1559Val)
NM_024408.4(NOTCH2):c.4692C>G (p.Ser1564Arg) rs774541297
NM_024408.4(NOTCH2):c.4732C>T (p.Arg1578Cys)
NM_024408.4(NOTCH2):c.4752G>C (p.Gln1584His) rs1649366904
NM_024408.4(NOTCH2):c.4859+191G>A
NM_024408.4(NOTCH2):c.4859+54G>C
NM_024408.4(NOTCH2):c.4860-164A>G
NM_024408.4(NOTCH2):c.4938A>G (p.Ala1646=) rs886042285
NM_024408.4(NOTCH2):c.4991T>A (p.Val1664Glu)
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile) rs17024517
NM_024408.4(NOTCH2):c.4999G>T (p.Val1667Phe) rs17024517
NM_024408.4(NOTCH2):c.516A>G (p.Thr172=)
NM_024408.4(NOTCH2):c.5172C>G (p.His1724Gln) rs1557804894
NM_024408.4(NOTCH2):c.5177G>A (p.Arg1726His) rs1557804884
NM_024408.4(NOTCH2):c.5195A>G (p.Gln1732Arg) rs2101154174
NM_024408.4(NOTCH2):c.5274G>A (p.Trp1758Ter) rs1553194093
NM_024408.4(NOTCH2):c.5310+5G>A rs1557804679
NM_024408.4(NOTCH2):c.5324C>T (p.Ala1775Val)
NM_024408.4(NOTCH2):c.5348C>G (p.Pro1783Arg) rs753586001
NM_024408.4(NOTCH2):c.5362C>G (p.Pro1788Ala) rs1557804176
NM_024408.4(NOTCH2):c.5407C>T (p.Pro1803Ser) rs1557804130
NM_024408.4(NOTCH2):c.5413C>T (p.Leu1805=) rs886042822
NM_024408.4(NOTCH2):c.5422dup (p.Thr1808fs) rs2101151409
NM_024408.4(NOTCH2):c.5482G>C (p.Gly1828Arg) rs2101150246
NM_024408.4(NOTCH2):c.5512C>T (p.Arg1838Ter) rs766543218
NM_024408.4(NOTCH2):c.5518G>A (p.Gly1840Ser) rs1064796810
NM_024408.4(NOTCH2):c.5630G>T (p.Gly1877Val) rs1557803723
NM_024408.4(NOTCH2):c.5664dup (p.Arg1889fs) rs927740391
NM_024408.4(NOTCH2):c.5723A>G (p.Asn1908Ser) rs1649194488
NM_024408.4(NOTCH2):c.5740C>T (p.Leu1914Phe) rs1557803661
NM_024408.4(NOTCH2):c.5781+10A>C rs369586235
NM_024408.4(NOTCH2):c.5795A>G (p.Asn1932Ser)
NM_024408.4(NOTCH2):c.5798G>A (p.Arg1933Gln)
NM_024408.4(NOTCH2):c.57C>T (p.Cys19=) rs11810554
NM_024408.4(NOTCH2):c.5834C>T (p.Thr1945Ile) rs1553193826
NM_024408.4(NOTCH2):c.5843del (p.Leu1948fs) rs1557803353
NM_024408.4(NOTCH2):c.5857C>T (p.Arg1953Cys) rs312262796
NM_024408.4(NOTCH2):c.5858G>A (p.Arg1953His) rs312262797
NM_024408.4(NOTCH2):c.5894A>G (p.Asn1965Ser) rs2101148035
NM_024408.4(NOTCH2):c.5951C>A (p.Ala1984Glu)
NM_024408.4(NOTCH2):c.5954C>A (p.Ala1985Asp) rs2101146997
NM_024408.4(NOTCH2):c.5959G>T (p.Val1987Phe) rs1553193743
NM_024408.4(NOTCH2):c.5983_5984del (p.Leu1995fs) rs1649134213
NM_024408.4(NOTCH2):c.6007C>T (p.Arg2003Ter) rs312262801
NM_024408.4(NOTCH2):c.6026A>G (p.Lys2009Arg) rs1557802966
NM_024408.4(NOTCH2):c.6027+10G>T rs774867522
NM_024408.4(NOTCH2):c.6027G>A (p.Lys2009=) rs1557802955
NM_024408.4(NOTCH2):c.6042G>C (p.Leu2014=) rs1000209105
NM_024408.4(NOTCH2):c.6104A>G (p.Asn2035Ser) rs756949183
NM_024408.4(NOTCH2):c.6106C>T (p.Arg2036Ter)
NM_024408.4(NOTCH2):c.6118G>A (p.Asp2040Asn) rs748876258
NM_024408.4(NOTCH2):c.6139C>G (p.Arg2047Gly) rs140353589
NM_024408.4(NOTCH2):c.6152G>C (p.Arg2051Pro) rs192122939
NM_024408.4(NOTCH2):c.6160A>T (p.Met2054Leu) rs774262327
NM_024408.4(NOTCH2):c.6182T>C (p.Leu2061Pro) rs1553193616
NM_024408.4(NOTCH2):c.6198T>C (p.Asn2066=) rs750891624
NM_024408.4(NOTCH2):c.61G>A (p.Ala21Thr) rs2603926
NM_024408.4(NOTCH2):c.6208A>C (p.Ser2070Arg)
NM_024408.4(NOTCH2):c.6212C>T (p.Pro2071Leu) rs2101144758
NM_024408.4(NOTCH2):c.6314G>A (p.Arg2105Gln)
NM_024408.4(NOTCH2):c.6344G>A (p.Ser2115Asn) rs1557802288
NM_024408.4(NOTCH2):c.6363G>A (p.Lys2121=)
NM_024408.4(NOTCH2):c.6412A>G (p.Lys2138Glu) rs1051003915
NM_024408.4(NOTCH2):c.6424T>C (p.Ser2142Pro) rs2101144199
NM_024408.4(NOTCH2):c.6424_6427del (p.Ser2142fs) rs1064793515
NM_024408.4(NOTCH2):c.6464A>C (p.Glu2155Ala) rs886043600
NM_024408.4(NOTCH2):c.6496T>C (p.Ser2166Pro) rs886042848
NM_024408.4(NOTCH2):c.6498C>T (p.Ser2166=)
NM_024408.4(NOTCH2):c.6533C>A (p.Ala2178Asp) rs770234870
NM_024408.4(NOTCH2):c.6588G>C (p.Gln2196His)
NM_024408.4(NOTCH2):c.660C>A (p.Ser220Arg) rs112650847
NM_024408.4(NOTCH2):c.6618A>C (p.Glu2206Asp) rs2101143543
NM_024408.4(NOTCH2):c.6659C>G (p.Ser2220Ter) rs886041979
NM_024408.4(NOTCH2):c.6671T>C (p.Leu2224Ser)
NM_024408.4(NOTCH2):c.6685C>T (p.His2229Tyr) rs1557802029
NM_024408.4(NOTCH2):c.6703A>G (p.Ser2235Gly) rs886044626
NM_024408.4(NOTCH2):c.6758G>A (p.Trp2253Ter) rs1553193524
NM_024408.4(NOTCH2):c.6787C>T (p.Gln2263Ter) rs886041862
NM_024408.4(NOTCH2):c.6837T>C (p.His2279=) rs886044699
NM_024408.4(NOTCH2):c.684A>G (p.Ser228=)
NM_024408.4(NOTCH2):c.6881T>C (p.Ile2294Thr)
NM_024408.4(NOTCH2):c.6921C>T (p.Phe2307=) rs886043678
NM_024408.4(NOTCH2):c.6962C>T (p.Ala2321Val) rs1177513541
NM_024408.4(NOTCH2):c.6997G>A (p.Ala2333Thr) rs143506822
NM_024408.4(NOTCH2):c.7021C>T (p.Gln2341Ter)
NM_024408.4(NOTCH2):c.703A>T (p.Thr235Ser)
NM_024408.4(NOTCH2):c.7072A>G (p.Met2358Val) rs763117840
NM_024408.4(NOTCH2):c.7120C>G (p.His2374Asp)
NM_024408.4(NOTCH2):c.7174T>C (p.Tyr2392His) rs778456880
NM_024408.4(NOTCH2):c.7195G>A (p.Glu2399Lys)
NM_024408.4(NOTCH2):c.719G>C (p.Gly240Ala) rs1464974590
NM_024408.4(NOTCH2):c.7205C>G (p.Pro2402Arg)
NM_024408.4(NOTCH2):c.7224C>G (p.Leu2408=) rs147795348
NM_024408.4(NOTCH2):c.728C>G (p.Thr243Ser)
NM_024408.4(NOTCH2):c.7338G>A (p.Gly2446=) rs372087953
NM_024408.4(NOTCH2):c.7356G>C (p.Gln2452His) rs1352825600
NM_024408.4(NOTCH2):c.7391ACA[2] (p.Asn2466del) rs1288820640
NM_024408.4(NOTCH2):c.7416A>C (p.Ter2472Cys) rs1276272666
NM_024408.4(NOTCH2):c.751+289G>C
NM_024408.4(NOTCH2):c.751+6G>C
NM_024408.4(NOTCH2):c.752-12_752-10del rs1557834122
NM_024408.4(NOTCH2):c.752-45T>G rs2453040
NM_024408.4(NOTCH2):c.782T>G (p.Ile261Ser) rs1202374604
NM_024408.4(NOTCH2):c.801C>A (p.His267Gln) rs1553202301
NM_024408.4(NOTCH2):c.815G>A (p.Gly272Glu) rs1557834076
NM_024408.4(NOTCH2):c.820G>A (p.Val274Ile)
NM_024408.4(NOTCH2):c.846C>T (p.Tyr282=)
NM_024408.4(NOTCH2):c.965A>G (p.Tyr322Cys) rs1557826779
NM_024408.4(NOTCH2):c.983A>G (p.Asn328Ser) rs2101148388

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