ClinVar Miner

List of variants in gene NOTCH1 reported as likely benign for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00898
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744 0.00645
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250 0.00587
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr) rs111309246 0.00557
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser) rs61733294 0.00484
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545 0.00435
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972 0.00404
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134 0.00318
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_017617.5(NOTCH1):c.7289G>C (p.Gly2430Ala) rs36049318 0.00200
NM_017617.5(NOTCH1):c.2813G>A (p.Arg938Gln) rs35962301 0.00195
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491 0.00171
NM_017617.5(NOTCH1):c.2207+16G>A rs200956009 0.00139
NM_017617.5(NOTCH1):c.865+18C>T rs55677618 0.00133
NM_017617.5(NOTCH1):c.2970-20G>A rs367927174 0.00116
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) rs188270459 0.00115
NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His) rs201768800 0.00110
NM_017617.5(NOTCH1):c.2604C>T (p.Val868=) rs115235667 0.00103
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553 0.00093
NM_017617.5(NOTCH1):c.5506G>A (p.Asp1836Asn) rs200100726 0.00093
NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln) rs202065858 0.00088
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048 0.00079
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846 0.00074
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile) rs111627256 0.00058
NM_017617.5(NOTCH1):c.1100-14C>T rs562148507 0.00056
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211 0.00056
NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met) rs377535397 0.00044
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112 0.00041
NM_017617.5(NOTCH1):c.432C>T (p.Cys144=) rs373713957 0.00035
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) rs559917218 0.00034
NM_017617.5(NOTCH1):c.5638+19A>G rs368675083 0.00026
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782 0.00020
NM_017617.5(NOTCH1):c.7090A>G (p.Ser2364Gly) rs201045092 0.00020
NM_017617.5(NOTCH1):c.2353+13C>T rs200756000 0.00019
NM_017617.5(NOTCH1):c.5384+14G>A rs755122664 0.00019
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser) rs367825691 0.00017
NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu) rs201163739 0.00016
NM_017617.5(NOTCH1):c.3511-11C>T rs201280571 0.00016
NM_017617.5(NOTCH1):c.5385-18C>T rs370602147 0.00016
NM_017617.5(NOTCH1):c.2353+14G>A rs140288481 0.00015
NM_017617.5(NOTCH1):c.1670-19C>T rs377686947 0.00014
NM_017617.5(NOTCH1):c.1914C>T (p.Cys638=) rs373068883 0.00014
NM_017617.5(NOTCH1):c.4905C>T (p.Ala1635=) rs751446074 0.00014
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn) rs200254239 0.00014
NM_017617.5(NOTCH1):c.1555+16G>A rs368798926 0.00010
NM_017617.5(NOTCH1):c.1670-18G>A rs375041394 0.00010
NM_017617.5(NOTCH1):c.2969+14G>A rs112192550 0.00010
NM_017617.5(NOTCH1):c.4096G>A (p.Gly1366Ser) rs778270588 0.00010
NM_017617.5(NOTCH1):c.5018+14G>A rs936227030 0.00009
NM_017617.5(NOTCH1):c.5019-6G>A rs978561896 0.00009
NM_017617.5(NOTCH1):c.999C>T (p.Ser333=) rs751646144 0.00009
NM_017617.5(NOTCH1):c.5018+13C>T rs752508890 0.00008
NM_017617.5(NOTCH1):c.2014+16C>T rs199814619 0.00007
NM_017617.5(NOTCH1):c.2207+15C>T rs187086513 0.00007
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_017617.5(NOTCH1):c.3901+19C>T rs373752718 0.00007
NM_017617.5(NOTCH1):c.5682C>T (p.Gly1894=) rs541372272 0.00007
NM_017617.5(NOTCH1):c.2588-16T>G rs781139940 0.00006
NM_017617.5(NOTCH1):c.2741-12G>A rs370769571 0.00006
NM_017617.5(NOTCH1):c.3270C>T (p.Thr1090=) rs773990513 0.00006
NM_017617.5(NOTCH1):c.5118C>T (p.Leu1706=) rs747037396 0.00006
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=) rs199719103 0.00005
NM_017617.5(NOTCH1):c.3326-16A>T rs374731388 0.00005
NM_017617.5(NOTCH1):c.5100C>T (p.Ala1700=) rs376495459 0.00005
NM_017617.5(NOTCH1):c.6181-15G>A rs375436198 0.00005
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr) rs567909904 0.00005
NM_017617.5(NOTCH1):c.7356G>A (p.Ala2452=) rs781520893 0.00005
NM_017617.5(NOTCH1):c.963C>T (p.Cys321=) rs201158068 0.00005
NM_017617.5(NOTCH1):c.1903+10C>G rs375704312 0.00004
NM_017617.5(NOTCH1):c.540C>T (p.Asn180=) rs760162406 0.00004
NM_017617.5(NOTCH1):c.6822C>A (p.Ser2274=) rs754675254 0.00004
NM_017617.5(NOTCH1):c.7203C>T (p.Asn2401=) rs756434740 0.00004
NM_017617.5(NOTCH1):c.865+16G>A rs199828787 0.00004
NM_017617.5(NOTCH1):c.114A>G (p.Glu38=) rs375506915 0.00003
NM_017617.5(NOTCH1):c.3012G>A (p.Ser1004=) rs371301397 0.00003
NM_017617.5(NOTCH1):c.3171+12G>A rs753242532 0.00003
NM_017617.5(NOTCH1):c.3643+17G>A rs376187570 0.00003
NM_017617.5(NOTCH1):c.3644-17G>A rs139960251 0.00003
NM_017617.5(NOTCH1):c.4015-7C>T rs761783451 0.00003
NM_017617.5(NOTCH1):c.411G>A (p.Ser137=) rs560826996 0.00003
NM_017617.5(NOTCH1):c.4911C>T (p.Gly1637=) rs953232466 0.00003
NM_017617.5(NOTCH1):c.5934+13T>C rs1326440924 0.00003
NM_017617.5(NOTCH1):c.927C>T (p.Gly309=) rs753681098 0.00003
NM_017617.5(NOTCH1):c.3172-12A>G rs547259185 0.00002
NM_017617.5(NOTCH1):c.4326G>A (p.Pro1442=) rs376469653 0.00002
NM_017617.5(NOTCH1):c.4746G>A (p.Pro1582=) rs886038974 0.00002
NM_017617.5(NOTCH1):c.5562C>T (p.Arg1854=) rs777125560 0.00002
NM_017617.5(NOTCH1):c.6366G>A (p.Pro2122=) rs762003410 0.00002
NM_017617.5(NOTCH1):c.708G>A (p.Thr236=) rs774679591 0.00002
NM_017617.5(NOTCH1):c.1099+9C>T rs1057523772 0.00001
NM_017617.5(NOTCH1):c.1278G>A (p.Ala426=) rs781782610 0.00001
NM_017617.5(NOTCH1):c.1441+18A>G rs760171880 0.00001
NM_017617.5(NOTCH1):c.1581C>T (p.Tyr527=) rs1299929890 0.00001
NM_017617.5(NOTCH1):c.1903+17G>T rs762205505 0.00001
NM_017617.5(NOTCH1):c.2015-14C>T rs149013721 0.00001
NM_017617.5(NOTCH1):c.2353+15C>T rs773271446 0.00001
NM_017617.5(NOTCH1):c.2745G>A (p.Pro915=) rs766331471 0.00001
NM_017617.5(NOTCH1):c.3015C>T (p.Phe1005=) rs991348745 0.00001
NM_017617.5(NOTCH1):c.3075C>T (p.Cys1025=) rs764208271 0.00001
NM_017617.5(NOTCH1):c.3643+10G>A rs1159458812 0.00001
NM_017617.5(NOTCH1):c.3643+14C>T rs776243821 0.00001
NM_017617.5(NOTCH1):c.3643+9C>T rs764985096 0.00001
NM_017617.5(NOTCH1):c.3990C>T (p.Arg1330=) rs775448292 0.00001
NM_017617.5(NOTCH1):c.429G>A (p.Pro143=) rs757406877 0.00001
NM_017617.5(NOTCH1):c.4428C>T (p.Gly1476=) rs765751888 0.00001
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val) rs774374213 0.00001
NM_017617.5(NOTCH1):c.5160C>T (p.Ala1720=) rs780625273 0.00001
NM_017617.5(NOTCH1):c.5168-15C>T rs1422578873 0.00001
NM_017617.5(NOTCH1):c.5168-5C>T rs757370134 0.00001
NM_017617.5(NOTCH1):c.5184G>A (p.Pro1728=) rs760548371 0.00001
NM_017617.5(NOTCH1):c.5805C>T (p.Ala1935=) rs774693459 0.00001
NM_017617.5(NOTCH1):c.6204C>T (p.Ala2068=) rs767118276 0.00001
NM_017617.5(NOTCH1):c.6582C>T (p.Ser2194=) rs200853719 0.00001
NM_017617.5(NOTCH1):c.6768G>A (p.Ala2256=) rs575575412 0.00001
NM_017617.5(NOTCH1):c.687C>T (p.Asn229=) rs535217359 0.00001
NM_017617.5(NOTCH1):c.7047G>A (p.Pro2349=) rs775336930 0.00001
NM_017617.5(NOTCH1):c.714C>T (p.Asp238=) rs532058137 0.00001
NM_017617.5(NOTCH1):c.140+20del rs751297042
NM_017617.5(NOTCH1):c.1441+11C>A rs376506127
NM_017617.5(NOTCH1):c.1442-12C>T rs1241878638
NM_017617.5(NOTCH1):c.1556-12C>T rs1554729635
NM_017617.5(NOTCH1):c.1680G>A (p.Gly560=) rs1057524117
NM_017617.5(NOTCH1):c.1904-16C>T rs775848413
NM_017617.5(NOTCH1):c.1904-20G>C
NM_017617.5(NOTCH1):c.2015-13G>C rs772867940
NM_017617.5(NOTCH1):c.2049G>C (p.Ala683=)
NM_017617.5(NOTCH1):c.2244C>A (p.Thr748=) rs1344101185
NM_017617.5(NOTCH1):c.2354-16G>C
NM_017617.5(NOTCH1):c.2514C>T (p.Cys838=) rs1554728839
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del) rs779164170
NM_017617.5(NOTCH1):c.2626A>G (p.Ser876Gly)
NM_017617.5(NOTCH1):c.2741-13C>G rs545249713
NM_017617.5(NOTCH1):c.2853T>C (p.Ser951=) rs1554728656
NM_017617.5(NOTCH1):c.3192C>T (p.Asp1064=) rs587778565
NM_017617.5(NOTCH1):c.3510+11C>T rs1057524613
NM_017617.5(NOTCH1):c.3643+8C>G rs1057523546
NM_017617.5(NOTCH1):c.3902-4C>T rs1057524704
NM_017617.5(NOTCH1):c.3915G>A (p.Glu1305=) rs1554728133
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met) rs201215245
NM_017617.5(NOTCH1):c.404-5T>C rs1229789449
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.4586+11G>C rs777578180
NM_017617.5(NOTCH1):c.4798C>T (p.Leu1600=) rs1554727850
NM_017617.5(NOTCH1):c.483C>T (p.Ser161=)
NM_017617.5(NOTCH1):c.5016C>T (p.Arg1672=) rs1251609154
NM_017617.5(NOTCH1):c.534T>C (p.Asp178=) rs1554730656
NM_017617.5(NOTCH1):c.5472+19G>C rs755674060
NM_017617.5(NOTCH1):c.5865C>T (p.Asn1955=) rs1554826853
NM_017617.5(NOTCH1):c.5922A>G (p.Gln1974=) rs770803201
NM_017617.5(NOTCH1):c.61+14C>T rs1425831389
NM_017617.5(NOTCH1):c.6181-7C>T rs1283606239
NM_017617.5(NOTCH1):c.6300C>A (p.Ile2100=) rs773483690
NM_017617.5(NOTCH1):c.6375C>T (p.His2125=) rs369009290
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg) rs116317506
NM_017617.5(NOTCH1):c.6546G>A (p.Lys2182=) rs1554826502
NM_017617.5(NOTCH1):c.6826C>T (p.Leu2276=) rs1554826447
NM_017617.5(NOTCH1):c.7200A>G (p.Ala2400=) rs780295772
NM_017617.5(NOTCH1):c.7269A>C (p.Ser2423=) rs1057523931
NM_017617.5(NOTCH1):c.7326C>T (p.Asp2442=)
NM_017617.5(NOTCH1):c.7575G>C (p.Pro2525=) rs375576856
NM_017617.5(NOTCH1):c.7641C>A (p.Ile2547=) rs370124241

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