ClinVar Miner

List of variants in gene NOTCH2 reported as likely benign for Hajdu-Cheney syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 410
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HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.272G>T (p.Arg91Leu) rs143195893 0.00899
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
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.2830G>T (p.Asp944Tyr) rs151130105 0.00067
NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys) rs147522485 0.00056
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.3235G>A (p.Val1079Ile) rs368918146 0.00050
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn) rs144047610 0.00050
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.5161G>A (p.Ala1721Thr) rs115013051 0.00022
NM_024408.4(NOTCH2):c.6997G>C (p.Ala2333Pro) rs143506822 0.00021
NM_024408.4(NOTCH2):c.1108+17C>T rs376006218 0.00018
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.4113C>G (p.Pro1371=) rs141657857 0.00014
NM_024408.4(NOTCH2):c.4929G>A (p.Thr1643=) rs587697719 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.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.1554C>T (p.Cys518=) rs138817140 0.00009
NM_024408.4(NOTCH2):c.6477G>A (p.Thr2159=) rs145566650 0.00009
NM_024408.4(NOTCH2):c.6945T>C (p.Ile2315=) rs771232139 0.00009
NM_024408.4(NOTCH2):c.7038C>G (p.Ala2346=) rs148846611 0.00009
NM_024408.4(NOTCH2):c.4041A>G (p.Gly1347=) rs753043164 0.00008
NM_024408.4(NOTCH2):c.3912C>T (p.Phe1304=) rs764301517 0.00007
NM_024408.4(NOTCH2):c.6159C>T (p.Arg2053=) rs143282787 0.00007
NM_024408.4(NOTCH2):c.751+325G>T rs782464243 0.00007
NM_024408.4(NOTCH2):c.1803C>T (p.Gly601=) rs377566312 0.00006
NM_024408.4(NOTCH2):c.2366-9T>C rs368664174 0.00006
NM_024408.4(NOTCH2):c.3462G>A (p.Ala1154=) rs146593279 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.5904G>A (p.Ala1968=) rs149442704 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.1915+12C>T rs375927260 0.00005
NM_024408.4(NOTCH2):c.2816C>T (p.Pro939Leu) rs201100122 0.00005
NM_024408.4(NOTCH2):c.6140G>A (p.Arg2047Gln) rs371060516 0.00005
NM_024408.4(NOTCH2):c.1109-12A>C rs782601589 0.00004
NM_024408.4(NOTCH2):c.1158G>A (p.Lys386=) rs781863099 0.00004
NM_024408.4(NOTCH2):c.3759G>A (p.Leu1253=) rs143045192 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.5775C>T (p.Val1925=) rs368986104 0.00004
NM_024408.4(NOTCH2):c.5958T>C (p.Ala1986=) rs563486507 0.00004
NM_024408.4(NOTCH2):c.6711T>C (p.Ser2237=) rs369394477 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.2982-13G>A rs1056181570 0.00003
NM_024408.4(NOTCH2):c.3109G>A (p.Glu1037Lys) rs782463588 0.00003
NM_024408.4(NOTCH2):c.4461C>T (p.Val1487=) rs143995454 0.00003
NM_024408.4(NOTCH2):c.5214-12T>C rs770224035 0.00003
NM_024408.4(NOTCH2):c.5684G>A (p.Arg1895His) rs201996575 0.00003
NM_024408.4(NOTCH2):c.6028-4G>A rs372465730 0.00003
NM_024408.4(NOTCH2):c.6087G>C (p.Leu2029=) rs141606816 0.00003
NM_024408.4(NOTCH2):c.6543C>T (p.Asn2181=) rs1457168283 0.00003
NM_024408.4(NOTCH2):c.6999G>A (p.Ala2333=) rs760004891 0.00003
NM_024408.4(NOTCH2):c.7146G>A (p.Lys2382=) rs775423271 0.00003
NM_024408.4(NOTCH2):c.7342G>T (p.Ala2448Ser) rs764210725 0.00003
NM_024408.4(NOTCH2):c.1539C>A (p.Val513=) rs781817441 0.00002
NM_024408.4(NOTCH2):c.1911G>A (p.Thr637=) rs369028361 0.00002
NM_024408.4(NOTCH2):c.2981+18C>T rs374603203 0.00002
NM_024408.4(NOTCH2):c.3450C>T (p.Leu1150=) rs781818195 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.5592C>T (p.Tyr1864=) rs770289962 0.00002
NM_024408.4(NOTCH2):c.6028-13G>T rs763457919 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.1248G>A (p.Val416=) rs374135765 0.00001
NM_024408.4(NOTCH2):c.1567+18G>C rs1651135776 0.00001
NM_024408.4(NOTCH2):c.1791C>T (p.Pro597=) rs781999109 0.00001
NM_024408.4(NOTCH2):c.2133A>C (p.Gly711=) rs1378692712 0.00001
NM_024408.4(NOTCH2):c.2295A>G (p.Pro765=) rs139358772 0.00001
NM_024408.4(NOTCH2):c.2436T>C (p.Asp812=) rs782136077 0.00001
NM_024408.4(NOTCH2):c.2578T>C (p.Leu860=) rs200524116 0.00001
NM_024408.4(NOTCH2):c.3102C>T (p.Cys1034=) rs782517126 0.00001
NM_024408.4(NOTCH2):c.3228T>C (p.Gly1076=) rs781988393 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.3447A>G (p.Gln1149=) rs1649894606 0.00001
NM_024408.4(NOTCH2):c.3561A>G (p.Glu1187=) rs1553195636 0.00001
NM_024408.4(NOTCH2):c.3798C>T (p.Asn1266=) rs1553194807 0.00001
NM_024408.4(NOTCH2):c.4228C>T (p.Arg1410Cys) rs145799900 0.00001
NM_024408.4(NOTCH2):c.4511+7G>T rs778914409 0.00001
NM_024408.4(NOTCH2):c.4605T>C (p.Ala1535=) rs1649373756 0.00001
NM_024408.4(NOTCH2):c.4677C>T (p.Leu1559=) rs756529497 0.00001
NM_024408.4(NOTCH2):c.5310+13T>C rs1472609269 0.00001
NM_024408.4(NOTCH2):c.5479+9C>T rs759713592 0.00001
NM_024408.4(NOTCH2):c.5500T>C (p.Leu1834=) rs750507344 0.00001
NM_024408.4(NOTCH2):c.5782-10C>T rs1220746088 0.00001
NM_024408.4(NOTCH2):c.6027+14G>T rs766834643 0.00001
NM_024408.4(NOTCH2):c.6222C>T (p.Thr2074=) rs764335447 0.00001
NM_024408.4(NOTCH2):c.6270T>G (p.Ser2090=) rs747743815 0.00001
NM_024408.4(NOTCH2):c.6423G>C (p.Leu2141=) rs778180468 0.00001
NM_024408.4(NOTCH2):c.6673C>T (p.Leu2225=) rs1314464356 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.855C>T (p.Arg285=) rs1553202291 0.00001
NM_024408.4(NOTCH2):c.1041T>C (p.Cys347=)
NM_024408.4(NOTCH2):c.1108+12_1108+14del
NM_024408.4(NOTCH2):c.1108+18G>A
NM_024408.4(NOTCH2):c.1109-18T>C
NM_024408.4(NOTCH2):c.1109-18T>G
NM_024408.4(NOTCH2):c.1113C>G (p.Leu371=) rs782323295
NM_024408.4(NOTCH2):c.1116G>C (p.Leu372=)
NM_024408.4(NOTCH2):c.1182C>A (p.Pro394=)
NM_024408.4(NOTCH2):c.1183C>T (p.Leu395=)
NM_024408.4(NOTCH2):c.1209C>T (p.Cys403=) rs781829198
NM_024408.4(NOTCH2):c.1236C>T (p.Cys412=) rs2101145319
NM_024408.4(NOTCH2):c.1265-20T>G
NM_024408.4(NOTCH2):c.1278T>A (p.Pro426=)
NM_024408.4(NOTCH2):c.1281T>C (p.Cys427=)
NM_024408.4(NOTCH2):c.1314C>G (p.Gly438=)
NM_024408.4(NOTCH2):c.1314C>T (p.Gly438=) rs782348587
NM_024408.4(NOTCH2):c.1347A>G (p.Ala449=)
NM_024408.4(NOTCH2):c.1437A>G (p.Thr479=)
NM_024408.4(NOTCH2):c.1453+19A>C
NM_024408.4(NOTCH2):c.1453+7G>C rs782513711
NM_024408.4(NOTCH2):c.1454-11G>T
NM_024408.4(NOTCH2):c.1454-14T>A rs2101141758
NM_024408.4(NOTCH2):c.1454-9T>C
NM_024408.4(NOTCH2):c.1521G>T (p.Gly507=)
NM_024408.4(NOTCH2):c.1557G>A (p.Leu519=)
NM_024408.4(NOTCH2):c.1557G>T (p.Leu519=)
NM_024408.4(NOTCH2):c.1567+16C>A
NM_024408.4(NOTCH2):c.1567+16C>T
NM_024408.4(NOTCH2):c.1567+17_1567+18insTAA
NM_024408.4(NOTCH2):c.1567+19G>A
NM_024408.4(NOTCH2):c.1567+19del
NM_024408.4(NOTCH2):c.1567+20C>G
NM_024408.4(NOTCH2):c.1568-11C>T rs2101140224
NM_024408.4(NOTCH2):c.1568-16A>G
NM_024408.4(NOTCH2):c.1568-18C>T
NM_024408.4(NOTCH2):c.1602T>C (p.Asp534=)
NM_024408.4(NOTCH2):c.1620G>A (p.Pro540=)
NM_024408.4(NOTCH2):c.1620G>T (p.Pro540=)
NM_024408.4(NOTCH2):c.1624C>T (p.Leu542=)
NM_024408.4(NOTCH2):c.1662T>C (p.Tyr554=)
NM_024408.4(NOTCH2):c.1681+19T>A
NM_024408.4(NOTCH2):c.1681+19T>G
NM_024408.4(NOTCH2):c.1681+8T>A
NM_024408.4(NOTCH2):c.1719C>T (p.Asn573=)
NM_024408.4(NOTCH2):c.1728C>T (p.Pro576=)
NM_024408.4(NOTCH2):c.1785C>T (p.Cys595=)
NM_024408.4(NOTCH2):c.1854C>T (p.Asn618=)
NM_024408.4(NOTCH2):c.1905A>G (p.Pro635=)
NM_024408.4(NOTCH2):c.1915+9A>G
NM_024408.4(NOTCH2):c.1916-18T>C
NM_024408.4(NOTCH2):c.1916-19G>A
NM_024408.4(NOTCH2):c.1916-20C>T
NM_024408.4(NOTCH2):c.1923T>C (p.Asn641=)
NM_024408.4(NOTCH2):c.2016A>G (p.Pro672=)
NM_024408.4(NOTCH2):c.2026+11_2026+19dup rs782391545
NM_024408.4(NOTCH2):c.2026+13T>C
NM_024408.4(NOTCH2):c.2027-6C>A
NM_024408.4(NOTCH2):c.2027-7T>C
NM_024408.4(NOTCH2):c.2038A>G (p.Asn680Asp)
NM_024408.4(NOTCH2):c.2064C>T (p.Ser688=) rs2101124725
NM_024408.4(NOTCH2):c.2097C>T (p.Asn699=)
NM_024408.4(NOTCH2):c.2142C>T (p.His714=) rs1553198250
NM_024408.4(NOTCH2):c.2178C>T (p.Ser726=)
NM_024408.4(NOTCH2):c.2219+15C>T
NM_024408.4(NOTCH2):c.2219+17T>C
NM_024408.4(NOTCH2):c.2220-19A>C
NM_024408.4(NOTCH2):c.2220-19_2220-18del
NM_024408.4(NOTCH2):c.2223T>C (p.Tyr741=) rs1264806894
NM_024408.4(NOTCH2):c.2244C>G (p.Gly748=)
NM_024408.4(NOTCH2):c.2365+16C>T
NM_024408.4(NOTCH2):c.2366-4A>G
NM_024408.4(NOTCH2):c.2439C>T (p.Asp813=)
NM_024408.4(NOTCH2):c.2451C>T (p.Tyr817=)
NM_024408.4(NOTCH2):c.2480-13A>G
NM_024408.4(NOTCH2):c.2480-14C>T
NM_024408.4(NOTCH2):c.2480-20C>T
NM_024408.4(NOTCH2):c.2480-23_2480-12del
NM_024408.4(NOTCH2):c.2480-7T>C
NM_024408.4(NOTCH2):c.2496A>G (p.Thr832=)
NM_024408.4(NOTCH2):c.2599+18G>C
NM_024408.4(NOTCH2):c.2599+9A>G
NM_024408.4(NOTCH2):c.2600-18T>C
NM_024408.4(NOTCH2):c.2661C>T (p.Leu887=)
NM_024408.4(NOTCH2):c.2685C>T (p.Tyr895=)
NM_024408.4(NOTCH2):c.2694A>G (p.Glu898=)
NM_024408.4(NOTCH2):c.2753-12G>T
NM_024408.4(NOTCH2):c.2753-14T>C
NM_024408.4(NOTCH2):c.2753-16T>C
NM_024408.4(NOTCH2):c.2753-19T>A
NM_024408.4(NOTCH2):c.2811C>T (p.Cys937=)
NM_024408.4(NOTCH2):c.2859T>C (p.Cys953=)
NM_024408.4(NOTCH2):c.2892C>T (p.Cys964=)
NM_024408.4(NOTCH2):c.2946C>T (p.Val982=)
NM_024408.4(NOTCH2):c.2949T>C (p.His983=) rs1557814141
NM_024408.4(NOTCH2):c.2981+19G>A
NM_024408.4(NOTCH2):c.2981+19G>T rs781966382
NM_024408.4(NOTCH2):c.2982-20T>A
NM_024408.4(NOTCH2):c.2982-9G>T rs2101104058
NM_024408.4(NOTCH2):c.3003A>G (p.Thr1001=)
NM_024408.4(NOTCH2):c.3039C>T (p.Cys1013=) rs2101103938
NM_024408.4(NOTCH2):c.3060C>T (p.Ser1020=) rs1650034316
NM_024408.4(NOTCH2):c.3075G>A (p.Glu1025=) rs782566942
NM_024408.4(NOTCH2):c.3105G>A (p.Leu1035=) rs2101103792
NM_024408.4(NOTCH2):c.3108T>C (p.Asn1036=)
NM_024408.4(NOTCH2):c.3111G>A (p.Glu1037=)
NM_024408.4(NOTCH2):c.3123T>G (p.Val1041=) rs782150297
NM_024408.4(NOTCH2):c.3141C>T (p.Tyr1047=)
NM_024408.4(NOTCH2):c.3144C>T (p.Arg1048=)
NM_024408.4(NOTCH2):c.3171G>A (p.Gly1057=)
NM_024408.4(NOTCH2):c.3183+14T>G
NM_024408.4(NOTCH2):c.3183+15T>C
NM_024408.4(NOTCH2):c.3187C>T (p.Leu1063=)
NM_024408.4(NOTCH2):c.3205C>A (p.Arg1069=) rs61752485
NM_024408.4(NOTCH2):c.3207G>C (p.Arg1069=)
NM_024408.4(NOTCH2):c.3210T>A (p.Ser1070=)
NM_024408.4(NOTCH2):c.3264A>G (p.Leu1088=)
NM_024408.4(NOTCH2):c.3297C>T (p.Asp1099=)
NM_024408.4(NOTCH2):c.3318C>T (p.Asp1106=)
NM_024408.4(NOTCH2):c.3339T>C (p.Gly1113=)
NM_024408.4(NOTCH2):c.3396G>A (p.Thr1132=)
NM_024408.4(NOTCH2):c.3396G>T (p.Thr1132=)
NM_024408.4(NOTCH2):c.3402C>T (p.Tyr1134=)
NM_024408.4(NOTCH2):c.3408G>A (p.Gln1136=)
NM_024408.4(NOTCH2):c.3480C>T (p.His1160=)
NM_024408.4(NOTCH2):c.3489A>G (p.Thr1163=)
NM_024408.4(NOTCH2):c.3523-10C>T rs2101182888
NM_024408.4(NOTCH2):c.3523-15_3523-13del rs782523879
NM_024408.4(NOTCH2):c.3523-17T>C
NM_024408.4(NOTCH2):c.3576G>A (p.Gln1192=)
NM_024408.4(NOTCH2):c.3624T>C (p.His1208=)
NM_024408.4(NOTCH2):c.3655+12T>A
NM_024408.4(NOTCH2):c.3655+18T>C
NM_024408.4(NOTCH2):c.3656-13C>T
NM_024408.4(NOTCH2):c.3656-16C>G
NM_024408.4(NOTCH2):c.3656-6C>T
NM_024408.4(NOTCH2):c.3684C>T (p.Asp1228=)
NM_024408.4(NOTCH2):c.3720G>A (p.Gln1240=)
NM_024408.4(NOTCH2):c.3723C>T (p.Cys1241=)
NM_024408.4(NOTCH2):c.3750T>C (p.Cys1250=) rs2101169348
NM_024408.4(NOTCH2):c.3789A>C (p.Gly1263=) rs149036937
NM_024408.4(NOTCH2):c.3892+12T>C
NM_024408.4(NOTCH2):c.3892+13C>G
NM_024408.4(NOTCH2):c.3893-11T>A
NM_024408.4(NOTCH2):c.3893-19T>C
NM_024408.4(NOTCH2):c.3894C>G (p.Gly1298=)
NM_024408.4(NOTCH2):c.3897G>A (p.Arg1299=)
NM_024408.4(NOTCH2):c.4005+13T>C
NM_024408.4(NOTCH2):c.4005+14T>C
NM_024408.4(NOTCH2):c.4005+9C>A
NM_024408.4(NOTCH2):c.4006-18C>T
NM_024408.4(NOTCH2):c.4006-4A>G rs2101163396
NM_024408.4(NOTCH2):c.4023G>A (p.Arg1341=)
NM_024408.4(NOTCH2):c.4065G>A (p.Glu1355=)
NM_024408.4(NOTCH2):c.4077C>T (p.His1359=)
NM_024408.4(NOTCH2):c.4080C>T (p.Thr1360=)
NM_024408.4(NOTCH2):c.4083C>T (p.Ala1361=)
NM_024408.4(NOTCH2):c.4185T>A (p.Pro1395=) rs1553194472
NM_024408.4(NOTCH2):c.4194C>T (p.Tyr1398=)
NM_024408.4(NOTCH2):c.4197C>G (p.Ser1399=)
NM_024408.4(NOTCH2):c.4197C>T (p.Ser1399=)
NM_024408.4(NOTCH2):c.4221G>A (p.Ser1407=)
NM_024408.4(NOTCH2):c.4233T>C (p.Cys1411=)
NM_024408.4(NOTCH2):c.4245G>A (p.Thr1415=)
NM_024408.4(NOTCH2):c.4278G>A (p.Leu1426=)
NM_024408.4(NOTCH2):c.4293C>T (p.Ala1431=)
NM_024408.4(NOTCH2):c.4304G>A (p.Arg1435Gln) rs747190078
NM_024408.4(NOTCH2):c.4341C>G (p.Ala1447=)
NM_024408.4(NOTCH2):c.4341C>T (p.Ala1447=)
NM_024408.4(NOTCH2):c.4344C>T (p.Cys1448=)
NM_024408.4(NOTCH2):c.4355G>A (p.Gly1452Glu)
NM_024408.4(NOTCH2):c.4398C>T (p.Cys1466=)
NM_024408.4(NOTCH2):c.4407A>C (p.Pro1469=)
NM_024408.4(NOTCH2):c.4470G>C (p.Leu1490=)
NM_024408.4(NOTCH2):c.4491G>A (p.Gln1497=)
NM_024408.4(NOTCH2):c.4494G>A (p.Gly1498=)
NM_024408.4(NOTCH2):c.4497C>T (p.Asn1499=)
NM_024408.4(NOTCH2):c.4511+10T>C
NM_024408.4(NOTCH2):c.4511+13C>G
NM_024408.4(NOTCH2):c.4511+14G>A
NM_024408.4(NOTCH2):c.4512-10C>G
NM_024408.4(NOTCH2):c.4512-18C>G
NM_024408.4(NOTCH2):c.4512-21_4512-19del
NM_024408.4(NOTCH2):c.4515T>C (p.Tyr1505=)
NM_024408.4(NOTCH2):c.4665T>C (p.Pro1555=) rs587722015
NM_024408.4(NOTCH2):c.4758A>G (p.Glu1586=)
NM_024408.4(NOTCH2):c.4767G>T (p.Val1589=)
NM_024408.4(NOTCH2):c.4859+18G>A
NM_024408.4(NOTCH2):c.4860-15C>T
NM_024408.4(NOTCH2):c.4860-8T>A
NM_024408.4(NOTCH2):c.4884C>T (p.Asp1628=)
NM_024408.4(NOTCH2):c.4938A>G (p.Ala1646=) rs886042285
NM_024408.4(NOTCH2):c.4947C>T (p.Leu1649=)
NM_024408.4(NOTCH2):c.4959C>T (p.His1653=)
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile) rs17024517
NM_024408.4(NOTCH2):c.5002+20A>T
NM_024408.4(NOTCH2):c.5003-11T>C
NM_024408.4(NOTCH2):c.5003-11_5003-10del rs2101155029
NM_024408.4(NOTCH2):c.5003-16C>A rs762603409
NM_024408.4(NOTCH2):c.5003-7C>A
NM_024408.4(NOTCH2):c.5037C>G (p.Leu1679=)
NM_024408.4(NOTCH2):c.5064C>A (p.Ile1688=)
NM_024408.4(NOTCH2):c.5082G>A (p.Leu1694=)
NM_024408.4(NOTCH2):c.5148T>C (p.Thr1716=)
NM_024408.4(NOTCH2):c.5178T>C (p.Arg1726=)
NM_024408.4(NOTCH2):c.5213+16A>G rs974114448
NM_024408.4(NOTCH2):c.5213+9C>A
NM_024408.4(NOTCH2):c.5310+17A>G
NM_024408.4(NOTCH2):c.5310+17A>T
NM_024408.4(NOTCH2):c.5310+7T>G
NM_024408.4(NOTCH2):c.5311-20G>C
NM_024408.4(NOTCH2):c.5311-5T>G
NM_024408.4(NOTCH2):c.5311-7C>G
NM_024408.4(NOTCH2):c.5412G>A (p.Ser1804=)
NM_024408.4(NOTCH2):c.5454G>A (p.Val1818=)
NM_024408.4(NOTCH2):c.5479+10G>A
NM_024408.4(NOTCH2):c.5479+10G>T
NM_024408.4(NOTCH2):c.5479+19C>A
NM_024408.4(NOTCH2):c.5479+8C>T
NM_024408.4(NOTCH2):c.5480-5T>C
NM_024408.4(NOTCH2):c.5480-6C>T
NM_024408.4(NOTCH2):c.5520C>T (p.Gly1840=)
NM_024408.4(NOTCH2):c.5523C>T (p.Ser1841=)
NM_024408.4(NOTCH2):c.5553A>G (p.Ala1851=)
NM_024408.4(NOTCH2):c.5622C>T (p.Asp1874=) rs2101149878
NM_024408.4(NOTCH2):c.5781+10A>C rs369586235
NM_024408.4(NOTCH2):c.5781+10A>G
NM_024408.4(NOTCH2):c.5781+14G>A
NM_024408.4(NOTCH2):c.5781+19G>A
NM_024408.4(NOTCH2):c.5782-5T>C
NM_024408.4(NOTCH2):c.5782-7C>G
NM_024408.4(NOTCH2):c.5814T>C (p.Asp1938=)
NM_024408.4(NOTCH2):c.5898C>T (p.Cys1966=)
NM_024408.4(NOTCH2):c.5904G>T (p.Ala1968=) rs149442704
NM_024408.4(NOTCH2):c.5929+12A>G rs1003030783
NM_024408.4(NOTCH2):c.5946C>T (p.His1982=)
NM_024408.4(NOTCH2):c.5970G>A (p.Val1990=)
NM_024408.4(NOTCH2):c.6003C>T (p.Ala2001=) rs267597957
NM_024408.4(NOTCH2):c.6007C>A (p.Arg2003=)
NM_024408.4(NOTCH2):c.6027+10G>C
NM_024408.4(NOTCH2):c.6028-16T>C
NM_024408.4(NOTCH2):c.6042G>C (p.Leu2014=) rs1000209105
NM_024408.4(NOTCH2):c.6084C>A (p.Ile2028=)
NM_024408.4(NOTCH2):c.6088T>C (p.Leu2030=)
NM_024408.4(NOTCH2):c.6123T>C (p.His2041=)
NM_024408.4(NOTCH2):c.6141G>A (p.Arg2047=) rs1649083144
NM_024408.4(NOTCH2):c.6171C>T (p.Asp2057=)
NM_024408.4(NOTCH2):c.6234T>C (p.Ser2078=)
NM_024408.4(NOTCH2):c.6279C>T (p.Ser2093=) rs1425019919
NM_024408.4(NOTCH2):c.6282G>A (p.Leu2094=) rs2101144593
NM_024408.4(NOTCH2):c.6342T>C (p.Thr2114=)
NM_024408.4(NOTCH2):c.6388A>C (p.Arg2130=)
NM_024408.4(NOTCH2):c.6393G>A (p.Arg2131=)
NM_024408.4(NOTCH2):c.6414G>A (p.Lys2138=)
NM_024408.4(NOTCH2):c.6435A>G (p.Ser2145=)
NM_024408.4(NOTCH2):c.6474C>T (p.His2158=) rs1649064512
NM_024408.4(NOTCH2):c.6498C>T (p.Ser2166=)
NM_024408.4(NOTCH2):c.6561C>T (p.Ala2187=)
NM_024408.4(NOTCH2):c.6564C>G (p.Ala2188=) rs750483323
NM_024408.4(NOTCH2):c.6582T>C (p.His2194=)
NM_024408.4(NOTCH2):c.6597A>G (p.Leu2199=)
NM_024408.4(NOTCH2):c.6633A>C (p.Ala2211=)
NM_024408.4(NOTCH2):c.6645C>T (p.Ser2215=)
NM_024408.4(NOTCH2):c.6675A>G (p.Leu2225=)
NM_024408.4(NOTCH2):c.6678C>T (p.Ser2226=)
NM_024408.4(NOTCH2):c.6699A>G (p.Pro2233=)
NM_024408.4(NOTCH2):c.6729G>A (p.Arg2243=) rs1649053941
NM_024408.4(NOTCH2):c.6825T>G (p.Ala2275=) rs372580607
NM_024408.4(NOTCH2):c.6855G>A (p.Gln2285=)
NM_024408.4(NOTCH2):c.6909C>T (p.Pro2303=)
NM_024408.4(NOTCH2):c.6960G>T (p.Gly2320=)
NM_024408.4(NOTCH2):c.7002C>T (p.Gly2334=) rs1557801738
NM_024408.4(NOTCH2):c.7077C>T (p.Pro2359=)
NM_024408.4(NOTCH2):c.7125T>C (p.Pro2375=)
NM_024408.4(NOTCH2):c.7125T>G (p.Pro2375=)
NM_024408.4(NOTCH2):c.7176T>C (p.Tyr2392=)
NM_024408.4(NOTCH2):c.7197G>A (p.Glu2399=)
NM_024408.4(NOTCH2):c.7206C>G (p.Pro2402=)
NM_024408.4(NOTCH2):c.7218T>C (p.Gly2406=)
NM_024408.4(NOTCH2):c.7224C>T (p.Leu2408=)
NM_024408.4(NOTCH2):c.7317G>T (p.Val2439=)
NM_024408.4(NOTCH2):c.7323C>A (p.Thr2441=)
NM_024408.4(NOTCH2):c.7326C>T (p.Ser2442=) rs2101141240
NM_024408.4(NOTCH2):c.7338G>A (p.Gly2446=) rs372087953
NM_024408.4(NOTCH2):c.7338G>T (p.Gly2446=)
NM_024408.4(NOTCH2):c.7353T>A (p.Gly2451=)
NM_024408.4(NOTCH2):c.7353T>C (p.Gly2451=)
NM_024408.4(NOTCH2):c.7368G>C (p.Gly2456=)
NM_024408.4(NOTCH2):c.7389A>G (p.Pro2463=)
NM_024408.4(NOTCH2):c.7413G>C (p.Ala2471=)
NM_024408.4(NOTCH2):c.752-13C>G
NM_024408.4(NOTCH2):c.752-16G>A
NM_024408.4(NOTCH2):c.762G>C (p.Gly254=)
NM_024408.4(NOTCH2):c.768C>T (p.Thr256=)
NM_024408.4(NOTCH2):c.843T>C (p.Thr281=) rs2101184870
NM_024408.4(NOTCH2):c.874+12G>A
NM_024408.4(NOTCH2):c.874+7A>G
NM_024408.4(NOTCH2):c.875-15A>C
NM_024408.4(NOTCH2):c.875-18G>A
NM_024408.4(NOTCH2):c.875-8C>G
NM_024408.4(NOTCH2):c.909G>A (p.Leu303=) rs781969024
NM_024408.4(NOTCH2):c.984C>T (p.Asn328=)

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