ClinVar Miner

List of variants in gene NOTCH1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 300
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HGVS dbSNP
NM_017617.5(NOTCH1):c.-6G>T
NM_017617.5(NOTCH1):c.1038C>T (p.His346=) rs376951155
NM_017617.5(NOTCH1):c.1041C>T (p.Gly347=)
NM_017617.5(NOTCH1):c.1099+9C>T rs1057523772
NM_017617.5(NOTCH1):c.1100-141C>G
NM_017617.5(NOTCH1):c.1100-14C>T rs562148507
NM_017617.5(NOTCH1):c.1100-8C>T rs545088400
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=) rs192683347
NM_017617.5(NOTCH1):c.1146C>T (p.Asn382=) rs368665838
NM_017617.5(NOTCH1):c.114A>G (p.Glu38=) rs375506915
NM_017617.5(NOTCH1):c.1255+15_1255+16del
NM_017617.5(NOTCH1):c.1272G>A (p.Glu424=) rs377342874
NM_017617.5(NOTCH1):c.1278G>A (p.Ala426=) rs781782610
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=) rs61733293
NM_017617.5(NOTCH1):c.140+20del rs751297042
NM_017617.5(NOTCH1):c.140+257A>T
NM_017617.5(NOTCH1):c.140+71G>A
NM_017617.5(NOTCH1):c.1407C>T (p.Asp469=)
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=) rs61751555
NM_017617.5(NOTCH1):c.1441+11C>A rs376506127
NM_017617.5(NOTCH1):c.1441+18A>G rs760171880
NM_017617.5(NOTCH1):c.1442-12C>T rs1241878638
NM_017617.5(NOTCH1):c.147C>T (p.Gly49=) rs746002433
NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His) rs201768800
NM_017617.5(NOTCH1):c.1512C>A (p.Arg504=)
NM_017617.5(NOTCH1):c.1554G>A (p.Thr518=) rs190721271
NM_017617.5(NOTCH1):c.1555+16G>A rs368798926
NM_017617.5(NOTCH1):c.1555+60G>T
NM_017617.5(NOTCH1):c.1556-12C>T rs1554729635
NM_017617.5(NOTCH1):c.1556-9C>T rs150834418
NM_017617.5(NOTCH1):c.1567C>T (p.His523Tyr) rs572103199
NM_017617.5(NOTCH1):c.156C>T (p.Phe52=) rs536299678
NM_017617.5(NOTCH1):c.1581C>T (p.Tyr527=) rs1299929890
NM_017617.5(NOTCH1):c.1650C>T (p.Tyr550=) rs371634784
NM_017617.5(NOTCH1):c.1669+16C>T
NM_017617.5(NOTCH1):c.1670-18G>A rs375041394
NM_017617.5(NOTCH1):c.1670-19C>T rs377686947
NM_017617.5(NOTCH1):c.1680G>A (p.Gly560=) rs1057524117
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val) rs369067940
NM_017617.5(NOTCH1):c.1731C>T (p.Tyr577=)
NM_017617.5(NOTCH1):c.1749C>T (p.Gly583=) rs751367001
NM_017617.5(NOTCH1):c.1788G>A (p.Thr596=) rs925293836
NM_017617.5(NOTCH1):c.17_18delinsTT (p.Ala6Val) rs878855023
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His) rs138504021
NM_017617.5(NOTCH1):c.1869C>T (p.Asn623=)
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=) rs374320445
NM_017617.5(NOTCH1):c.1903+10C>G rs375704312
NM_017617.5(NOTCH1):c.1903+17G>T rs762205505
NM_017617.5(NOTCH1):c.1904-16C>T rs775848413
NM_017617.5(NOTCH1):c.1914C>T (p.Cys638=) rs373068883
NM_017617.5(NOTCH1):c.1929T>C (p.Asp643=) rs527323201
NM_017617.5(NOTCH1):c.1953C>T (p.Asp651=) rs752168856
NM_017617.5(NOTCH1):c.1956G>T (p.Ser652=)
NM_017617.5(NOTCH1):c.1962C>T (p.Thr654=) rs61751554
NM_017617.5(NOTCH1):c.197C>T (p.Thr66Ile) rs752133245
NM_017617.5(NOTCH1):c.2014+16C>T rs199814619
NM_017617.5(NOTCH1):c.2015-13G>C rs772867940
NM_017617.5(NOTCH1):c.2015-14C>T rs149013721
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048
NM_017617.5(NOTCH1):c.2085C>T (p.Asp695=) rs200573958
NM_017617.5(NOTCH1):c.2112C>T (p.Cys704=) rs757495549
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=) rs376744729
NM_017617.5(NOTCH1):c.2127C>T (p.His709=) rs755898711
NM_017617.5(NOTCH1):c.2136C>A (p.Thr712=) rs369346436
NM_017617.5(NOTCH1):c.2148G>A (p.Glu716=) rs376468003
NM_017617.5(NOTCH1):c.2207+10G>A rs191892426
NM_017617.5(NOTCH1):c.2207+15C>T rs187086513
NM_017617.5(NOTCH1):c.2207+16G>A rs200956009
NM_017617.5(NOTCH1):c.2244C>A (p.Thr748=) rs1344101185
NM_017617.5(NOTCH1):c.2292C>T (p.Asn764=) rs775201110
NM_017617.5(NOTCH1):c.2295C>T (p.Gly765=) rs144066379
NM_017617.5(NOTCH1):c.2352C>T (p.Ser784=) rs774701000
NM_017617.5(NOTCH1):c.2353+13C>T rs200756000
NM_017617.5(NOTCH1):c.2353+14G>A rs140288481
NM_017617.5(NOTCH1):c.2353+15C>T rs773271446
NM_017617.5(NOTCH1):c.2354-5T>C rs371944522
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=) rs199719103
NM_017617.5(NOTCH1):c.2427C>T (p.Asp809=) rs775162462
NM_017617.5(NOTCH1):c.2452C>T (p.Leu818=)
NM_017617.5(NOTCH1):c.2467+177G>A
NM_017617.5(NOTCH1):c.2467+28A>G
NM_017617.5(NOTCH1):c.2468-197C>T
NM_017617.5(NOTCH1):c.2468-287G>A
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) rs559917218
NM_017617.5(NOTCH1):c.2496G>A (p.Pro832=) rs61751551
NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=) rs61751551
NM_017617.5(NOTCH1):c.2505C>A (p.Pro835=) rs111756273
NM_017617.5(NOTCH1):c.2514C>T (p.Cys838=) rs1554728839
NM_017617.5(NOTCH1):c.2588-16T>G rs781139940
NM_017617.5(NOTCH1):c.2588-93C>T
NM_017617.5(NOTCH1):c.2604C>T (p.Val868=) rs115235667
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn) rs191357265
NM_017617.5(NOTCH1):c.2718C>T (p.Thr906=) rs200243788
NM_017617.5(NOTCH1):c.2740+128G>A
NM_017617.5(NOTCH1):c.2740+187C>T
NM_017617.5(NOTCH1):c.2740+188G>A
NM_017617.5(NOTCH1):c.2740+295C>T
NM_017617.5(NOTCH1):c.2741-12G>A rs370769571
NM_017617.5(NOTCH1):c.2741-13C>G rs545249713
NM_017617.5(NOTCH1):c.2745G>A (p.Pro915=) rs766331471
NM_017617.5(NOTCH1):c.2772C>T (p.Asp924=)
NM_017617.5(NOTCH1):c.2793C>T (p.Cys931=) rs557156741
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=) rs200332386
NM_017617.5(NOTCH1):c.2853T>C (p.Ser951=) rs1554728656
NM_017617.5(NOTCH1):c.2868C>T (p.Asn956=) rs760227470
NM_017617.5(NOTCH1):c.2969+14G>A rs112192550
NM_017617.5(NOTCH1):c.2969+182C>T
NM_017617.5(NOTCH1):c.2969+308C>T
NM_017617.5(NOTCH1):c.2970-20G>A rs367927174
NM_017617.5(NOTCH1):c.2970-9C>T rs568052902
NM_017617.5(NOTCH1):c.3012G>A (p.Ser1004=) rs371301397
NM_017617.5(NOTCH1):c.3015C>T (p.Phe1005=) rs991348745
NM_017617.5(NOTCH1):c.3042G>A (p.Thr1014=) rs371532644
NM_017617.5(NOTCH1):c.3099C>T (p.Gly1033=) rs775567314
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211
NM_017617.5(NOTCH1):c.3171+12G>A rs753242532
NM_017617.5(NOTCH1):c.3171+153G>A
NM_017617.5(NOTCH1):c.3171+8C>T
NM_017617.5(NOTCH1):c.3172-12A>G rs547259185
NM_017617.5(NOTCH1):c.3192C>T (p.Asp1064=) rs587778565
NM_017617.5(NOTCH1):c.3198G>A (p.Ser1066=) rs199892488
NM_017617.5(NOTCH1):c.3270C>T (p.Thr1090=) rs773990513
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=) rs374944458
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546
NM_017617.5(NOTCH1):c.3326-11A>C rs377648586
NM_017617.5(NOTCH1):c.3326-16A>T rs374731388
NM_017617.5(NOTCH1):c.3384G>A (p.Thr1128=) rs200608278
NM_017617.5(NOTCH1):c.3510+11C>T rs1057524613
NM_017617.5(NOTCH1):c.3510+148G>A
NM_017617.5(NOTCH1):c.3511-11C>T rs201280571
NM_017617.5(NOTCH1):c.3511-175G>A
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782
NM_017617.5(NOTCH1):c.3552C>T (p.Ile1184=) rs773375573
NM_017617.5(NOTCH1):c.3643+10G>A rs1159458812
NM_017617.5(NOTCH1):c.3643+14C>T rs776243821
NM_017617.5(NOTCH1):c.3643+17G>A rs376187570
NM_017617.5(NOTCH1):c.3643+8C>G rs1057523546
NM_017617.5(NOTCH1):c.3644-17G>A rs139960251
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552
NM_017617.5(NOTCH1):c.3684C>T (p.Pro1228=)
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846
NM_017617.5(NOTCH1):c.3852C>T (p.Cys1284=) rs377289044
NM_017617.5(NOTCH1):c.3901+19C>T rs373752718
NM_017617.5(NOTCH1):c.3901+3G>A rs373113999
NM_017617.5(NOTCH1):c.3902-4C>T rs1057524704
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=) rs61751559
NM_017617.5(NOTCH1):c.3915G>A (p.Glu1305=) rs1554728133
NM_017617.5(NOTCH1):c.4015-7C>T rs761783451
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491
NM_017617.5(NOTCH1):c.404-117T>C
NM_017617.5(NOTCH1):c.404-13C>G rs766360723
NM_017617.5(NOTCH1):c.404-5T>C rs1229789449
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=) rs200099319
NM_017617.5(NOTCH1):c.4096G>A (p.Gly1366Ser) rs778270588
NM_017617.5(NOTCH1):c.4101G>A (p.Pro1367=) rs374921637
NM_017617.5(NOTCH1):c.411G>A (p.Ser137=) rs560826996
NM_017617.5(NOTCH1):c.411G>T (p.Ser137=)
NM_017617.5(NOTCH1):c.4185C>T (p.Asn1395=) rs749570626
NM_017617.5(NOTCH1):c.4262A>G (p.Asn1421Ser) rs76473337
NM_017617.5(NOTCH1):c.4296C>T (p.Phe1432=) rs774697636
NM_017617.5(NOTCH1):c.4326G>A (p.Pro1442=) rs376469653
NM_017617.5(NOTCH1):c.432C>T (p.Cys144=) rs373713957
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=) rs202231073
NM_017617.5(NOTCH1):c.4410C>T (p.His1470=) rs750183248
NM_017617.5(NOTCH1):c.4428C>T (p.Gly1476=) rs765751888
NM_017617.5(NOTCH1):c.4560C>T (p.Asp1520=) rs1057523575
NM_017617.5(NOTCH1):c.456T>C (p.Gly152=) rs1044385750
NM_017617.5(NOTCH1):c.4572G>A (p.Ala1524=) rs745794855
NM_017617.5(NOTCH1):c.4586+11G>C rs777578180
NM_017617.5(NOTCH1):c.4710G>A (p.Ala1570=) rs773978978
NM_017617.5(NOTCH1):c.4719G>A (p.Thr1573=) rs775105774
NM_017617.5(NOTCH1):c.4746G>A (p.Pro1582=) rs886038974
NM_017617.5(NOTCH1):c.4798C>T (p.Leu1600=) rs1554727850
NM_017617.5(NOTCH1):c.4809C>T (p.Asn1603=) rs370523171
NM_017617.5(NOTCH1):c.4860C>T (p.Tyr1620=) rs375196212
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539
NM_017617.5(NOTCH1):c.4905C>T (p.Ala1635=) rs751446074
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=) rs371365065
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183
NM_017617.5(NOTCH1):c.4971C>T (p.Ser1657=) rs367838230
NM_017617.5(NOTCH1):c.5016C>T (p.Arg1672=) rs1251609154
NM_017617.5(NOTCH1):c.5018+13C>T rs752508890
NM_017617.5(NOTCH1):c.5018+14G>A rs936227030
NM_017617.5(NOTCH1):c.5019-286G>A
NM_017617.5(NOTCH1):c.5019-51C>T
NM_017617.5(NOTCH1):c.5019-6G>A rs978561896
NM_017617.5(NOTCH1):c.5100C>T (p.Ala1700=) rs376495459
NM_017617.5(NOTCH1):c.5103A>G (p.Ala1701=) rs776610176
NM_017617.5(NOTCH1):c.5118C>T (p.Leu1706=) rs747037396
NM_017617.5(NOTCH1):c.5160C>T (p.Ala1720=) rs780625273
NM_017617.5(NOTCH1):c.5168-15C>T rs1422578873
NM_017617.5(NOTCH1):c.5168-4G>A rs751709616
NM_017617.5(NOTCH1):c.5168-5C>T rs757370134
NM_017617.5(NOTCH1):c.5168-7C>T
NM_017617.5(NOTCH1):c.516C>T (p.Gly172=)
NM_017617.5(NOTCH1):c.5184G>A (p.Pro1728=) rs760548371
NM_017617.5(NOTCH1):c.51C>T (p.Leu17=) rs1478932209
NM_017617.5(NOTCH1):c.5223G>A (p.Ala1741=) rs766444406
NM_017617.5(NOTCH1):c.534T>C (p.Asp178=) rs1554730656
NM_017617.5(NOTCH1):c.5384+14G>A rs755122664
NM_017617.5(NOTCH1):c.5385-18C>T rs370602147
NM_017617.5(NOTCH1):c.5403A>G (p.Ser1801=) rs201358664
NM_017617.5(NOTCH1):c.540C>T (p.Asn180=) rs760162406
NM_017617.5(NOTCH1):c.5421C>T (p.Asp1807=) rs376590737
NM_017617.5(NOTCH1):c.5472+19G>C rs755674060
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=) rs73668312
NM_017617.5(NOTCH1):c.5506G>A (p.Asp1836Asn) rs200100726
NM_017617.5(NOTCH1):c.5550C>T (p.Ala1850=) rs374451515
NM_017617.5(NOTCH1):c.5562C>T (p.Arg1854=) rs777125560
NM_017617.5(NOTCH1):c.558C>T (p.Pro186=) rs756111268
NM_017617.5(NOTCH1):c.5638+19A>G rs368675083
NM_017617.5(NOTCH1):c.5673C>T (p.Ser1891=) rs2229972
NM_017617.5(NOTCH1):c.5676G>A (p.Gly1892=) rs763584589
NM_017617.5(NOTCH1):c.5715C>T (p.Asp1905=) rs748200129
NM_017617.5(NOTCH1):c.5718G>A (p.Ala1906=) rs369730620
NM_017617.5(NOTCH1):c.5721G>A (p.Pro1907=) rs1020718980
NM_017617.5(NOTCH1):c.5733C>T (p.Ser1911=) rs61751534
NM_017617.5(NOTCH1):c.5805C>T (p.Ala1935=) rs774693459
NM_017617.5(NOTCH1):c.5865C>T (p.Asn1955=) rs1554826853
NM_017617.5(NOTCH1):c.5892G>A (p.Pro1964=) rs769135138
NM_017617.5(NOTCH1):c.5913C>T (p.Ala1971=)
NM_017617.5(NOTCH1):c.591C>T (p.Asn197=) rs370684825
NM_017617.5(NOTCH1):c.5922A>G (p.Gln1974=) rs770803201
NM_017617.5(NOTCH1):c.5934+13T>C rs1326440924
NM_017617.5(NOTCH1):c.6069C>T (p.Ala2023=) rs375920679
NM_017617.5(NOTCH1):c.6082+10C>T rs114120958
NM_017617.5(NOTCH1):c.6082+18C>T rs200956958
NM_017617.5(NOTCH1):c.6083-15G>C rs935662425
NM_017617.5(NOTCH1):c.6083-4G>A rs570242146
NM_017617.5(NOTCH1):c.608G>A (p.Arg203His) rs182763411
NM_017617.5(NOTCH1):c.61+14C>T rs1425831389
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=) rs188357478
NM_017617.5(NOTCH1):c.6111C>G (p.Ala2037=) rs749488166
NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=) rs201625763
NM_017617.5(NOTCH1):c.6150C>T (p.Asn2050=) rs757372588
NM_017617.5(NOTCH1):c.6180+126G>A
NM_017617.5(NOTCH1):c.6180+8C>T rs769015966
NM_017617.5(NOTCH1):c.6180+9G>A rs200371378
NM_017617.5(NOTCH1):c.6180+9G>T rs200371378
NM_017617.5(NOTCH1):c.6181-15G>A rs375436198
NM_017617.5(NOTCH1):c.6181-7C>T rs1283606239
NM_017617.5(NOTCH1):c.6204C>T (p.Ala2068=) rs767118276
NM_017617.5(NOTCH1):c.621C>T (p.Arg207=) rs756164624
NM_017617.5(NOTCH1):c.6222C>T (p.Tyr2074=) rs764551640
NM_017617.5(NOTCH1):c.6223G>A (p.Glu2075Lys)
NM_017617.5(NOTCH1):c.6300C>A (p.Ile2100=) rs773483690
NM_017617.5(NOTCH1):c.6363C>T (p.Ser2121=) rs61751533
NM_017617.5(NOTCH1):c.6366G>A (p.Pro2122=) rs762003410
NM_017617.5(NOTCH1):c.6375C>T (p.His2125=) rs369009290
NM_017617.5(NOTCH1):c.6396G>C (p.Thr2132=) rs554843595
NM_017617.5(NOTCH1):c.6409C>T (p.Pro2137Ser) rs372698234
NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=) rs369845924
NM_017617.5(NOTCH1):c.6454G>A (p.Gly2152Ser) rs116317506
NM_017617.5(NOTCH1):c.6546G>A (p.Lys2182=) rs1554826502
NM_017617.5(NOTCH1):c.6568C>T (p.Leu2190=) rs1037034230
NM_017617.5(NOTCH1):c.6570G>A (p.Leu2190=)
NM_017617.5(NOTCH1):c.6570G>C (p.Leu2190=) rs200630233
NM_017617.5(NOTCH1):c.6582C>T (p.Ser2194=) rs200853719
NM_017617.5(NOTCH1):c.6594G>T (p.Ser2198=) rs774256366
NM_017617.5(NOTCH1):c.6597C>G (p.Pro2199=) rs374640663
NM_017617.5(NOTCH1):c.6607C>T (p.Leu2203=)
NM_017617.5(NOTCH1):c.6636C>T (p.Asp2212=) rs370606059
NM_017617.5(NOTCH1):c.6666G>A (p.Pro2222=) rs202229687
NM_017617.5(NOTCH1):c.6739C>T (p.Leu2247=)
NM_017617.5(NOTCH1):c.6744C>T (p.Asn2248=) rs372771288
NM_017617.5(NOTCH1):c.6768G>A (p.Ala2256=) rs575575412
NM_017617.5(NOTCH1):c.6783C>T (p.Gly2261=) rs749536941
NM_017617.5(NOTCH1):c.6789G>C (p.Arg2263=)
NM_017617.5(NOTCH1):c.6822C>A (p.Ser2274=) rs754675254
NM_017617.5(NOTCH1):c.6826C>T (p.Leu2276=) rs1554826447
NM_017617.5(NOTCH1):c.687C>T (p.Asn229=) rs535217359
NM_017617.5(NOTCH1):c.6966A>G (p.Gln2322=)
NM_017617.5(NOTCH1):c.6975T>C (p.Pro2325=) rs200814776
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112
NM_017617.5(NOTCH1):c.7047G>A (p.Pro2349=) rs775336930
NM_017617.5(NOTCH1):c.708G>A (p.Thr236=) rs774679591
NM_017617.5(NOTCH1):c.7090A>G (p.Ser2364Gly) rs201045092
NM_017617.5(NOTCH1):c.714C>T (p.Asp238=) rs532058137
NM_017617.5(NOTCH1):c.7200A>G (p.Ala2400=) rs780295772
NM_017617.5(NOTCH1):c.7203C>T (p.Asn2401=) rs756434740
NM_017617.5(NOTCH1):c.7251G>A (p.Pro2417=) rs368498380
NM_017617.5(NOTCH1):c.7269A>C (p.Ser2423=) rs1057523931
NM_017617.5(NOTCH1):c.7289G>C (p.Gly2430Ala) rs36049318
NM_017617.5(NOTCH1):c.7356G>A (p.Ala2452=) rs781520893
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val) rs61755043
NM_017617.5(NOTCH1):c.7386C>T (p.Pro2462=) rs369470875
NM_017617.5(NOTCH1):c.7387G>A (p.Ala2463Thr) rs537210445
NM_017617.5(NOTCH1):c.7390C>T (p.Leu2464=) rs372760677
NM_017617.5(NOTCH1):c.7449G>A (p.Thr2483=) rs375728200
NM_017617.5(NOTCH1):c.7536G>A (p.Pro2512=) rs192299793
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile) rs111627256
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) rs188270459
NM_017617.5(NOTCH1):c.865+16G>A rs199828787
NM_017617.5(NOTCH1):c.865+18C>T rs55677618
NM_017617.5(NOTCH1):c.865+240A>G
NM_017617.5(NOTCH1):c.865+251G>A
NM_017617.5(NOTCH1):c.927C>T (p.Gly309=) rs753681098
NM_017617.5(NOTCH1):c.963C>T (p.Cys321=) rs201158068
NM_017617.5(NOTCH1):c.999C>T (p.Ser333=) rs751646144

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