ClinVar Miner

List of variants in gene NOTCH1 reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 132
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.1669+9T>C rs3125006 0.88208
NM_017617.5(NOTCH1):c.2587+103T>C rs9411206 0.68994
NM_017617.5(NOTCH1):c.2207+206T>C rs3125005 0.67229
NM_017617.5(NOTCH1):c.3325+21A>G rs3124597 0.66794
NM_017617.5(NOTCH1):c.2970-31A>G rs3124598 0.66710
NM_017617.5(NOTCH1):c.3171+54A>G rs3125000 0.66307
NM_017617.5(NOTCH1):c.3171+220A>G rs3812605 0.66281
NM_017617.5(NOTCH1):c.3172-71A>G rs3812603 0.66188
NM_017617.5(NOTCH1):c.2588-104T>C rs3125002 0.63620
NM_017617.5(NOTCH1):c.1556-43T>C rs4880099 0.63476
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420 0.62688
NM_017617.5(NOTCH1):c.1441+131A>G rs4077029 0.62622
NM_017617.5(NOTCH1):c.5473-43T>C rs3124594 0.62391
NM_017617.5(NOTCH1):c.*126G>A rs3124591 0.62076
NM_017617.5(NOTCH1):c.141-230T>C rs4489421 0.61297
NM_017617.5(NOTCH1):c.2467+21G>A rs3812608 0.60192
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) rs2229974 0.58641
NM_017617.5(NOTCH1):c.1441+7C>T rs9411208 0.57467
NM_017617.5(NOTCH1):c.3644-79C>T rs3124596 0.56837
NM_017617.5(NOTCH1):c.3172-122T>C rs3812604 0.56545
NM_017617.5(NOTCH1):c.5638+298C>T rs7850324 0.55133
NM_017617.5(NOTCH1):c.*1339T>C rs6563 0.51682
NM_017617.5(NOTCH1):c.3644-152G>C rs3829116 0.48987
NM_017617.5(NOTCH1):c.2588-4G>A rs3125001 0.48926
NM_017617.5(NOTCH1):c.1555+10A>G rs11145767 0.47945
NM_017617.5(NOTCH1):c.1670-9A>G rs3124603 0.47096
NM_017617.5(NOTCH1):c.4015-73G>A rs11145764 0.46764
NM_017617.5(NOTCH1):c.4014+75G>A rs4880098 0.46717
NM_017617.5(NOTCH1):c.1556-133A>G rs4880100 0.45812
NM_017617.5(NOTCH1):c.1555+245C>T rs3124605 0.43860
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=) rs10521 0.43502
NM_017617.5(NOTCH1):c.5639-174G>A rs3124999 0.43369
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=) rs2229971 0.42989
NM_017617.5(NOTCH1):c.1555+102C>T rs10781498 0.41628
NM_017617.5(NOTCH1):c.866-257G>A rs9411209 0.41373
NM_017617.5(NOTCH1):c.1442-43C>T rs9411254 0.40689
NM_017617.5(NOTCH1):c.1100-140G>A rs3125009 0.40656
NM_017617.5(NOTCH1):c.1555+272C>T rs3125008 0.40167
NM_017617.5(NOTCH1):c.2014+94C>T rs62579232 0.24322
NM_017617.5(NOTCH1):c.2207+70G>A rs3812609 0.14262
NM_017617.5(NOTCH1):c.2970-247C>T rs3124599 0.13000
NM_017617.5(NOTCH1):c.3644-140T>C rs7870145 0.12875
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=) rs2229975 0.12249
NM_017617.5(NOTCH1):c.866-263G>A rs10870078 0.12226
NM_017617.5(NOTCH1):c.5167+77G>C rs34383263 0.11475
NM_017617.5(NOTCH1):c.2740+12C>T rs36119806 0.11457
NM_017617.5(NOTCH1):c.5168-43T>C rs12344155 0.11185
NM_017617.5(NOTCH1):c.3643+111A>G rs11574902 0.09051
NM_017617.5(NOTCH1):c.2587+129G>A rs3125003 0.08452
NM_017617.5(NOTCH1):c.5638+87A>T rs11574906 0.08129
NM_017617.5(NOTCH1):c.3171+42G>A rs11145765 0.08084
NM_017617.5(NOTCH1):c.4587-85C>T rs13300218 0.07082
NM_017617.5(NOTCH1):c.5384+34G>A rs75842134 0.06665
NM_017617.5(NOTCH1):c.1555+105C>T rs11574887 0.06340
NM_017617.5(NOTCH1):c.5639-12C>T rs11574908 0.06332
NM_017617.5(NOTCH1):c.2014+170C>T rs12001048 0.04768
NM_017617.5(NOTCH1):c.5934+45G>A rs11574909 0.04332
NM_017617.5(NOTCH1):c.2587+74G>A rs11574894 0.04234
NM_017617.5(NOTCH1):c.3325+26G>A rs112134816 0.03375
NM_017617.5(NOTCH1):c.5167+208C>T rs11574905 0.02952
NM_017617.5(NOTCH1):c.7233A>G (p.Pro2411=) rs11574911 0.02871
NM_017617.5(NOTCH1):c.5385-70C>T rs115105090 0.02730
NM_017617.5(NOTCH1):c.2741-51A>G rs73668314 0.02683
NM_017617.5(NOTCH1):c.1100-85T>C rs116547005 0.02294
NM_017617.5(NOTCH1):c.5935-209G>A rs75581848 0.02220
NM_017617.5(NOTCH1):c.5935-148G>A rs11574910 0.02063
NM_017617.5(NOTCH1):c.*136A>G rs11574912 0.02039
NM_017617.5(NOTCH1):c.2587+20G>A rs148381982 0.01991
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=) rs61751557 0.01860
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=) rs2229970 0.01759
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_017617.5(NOTCH1):c.3643+56A>T rs7874030 0.01635
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_017617.5(NOTCH1):c.2468-19G>A rs116515776 0.01328
NM_017617.5(NOTCH1):c.1100-16G>C rs146815871 0.01292
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=) rs2229973 0.01198
NM_017617.5(NOTCH1):c.2664C>T (p.His888=) rs61751548 0.01162
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895 0.01135
NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=) rs3812596 0.01000
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=) rs148331061 0.00992
NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=) rs34152221 0.00938
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00898
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=) rs11574889 0.00854
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526 0.00754
NM_017617.5(NOTCH1):c.663C>T (p.Pro221=) rs11574872 0.00685
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744 0.00645
NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=) rs61751490 0.00638
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907 0.00561
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=) rs143654474 0.00477
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.6870C>T (p.Ser2290=) rs61751488 0.00398
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=) rs61751540 0.00377
NM_017617.5(NOTCH1):c.2207+10G>A rs191892426 0.00343
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538 0.00341
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=) rs116316039 0.00334
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546 0.00283
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536 0.00238
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_017617.5(NOTCH1):c.2813G>A (p.Arg938Gln) rs35962301 0.00195
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539 0.00182
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) rs3812602 0.00175
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.3511-10G>A rs139838537 0.00134
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553 0.00093
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His) rs138504021 0.00092
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.2136C>A (p.Thr712=) rs369346436 0.00053
NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=) rs139994842 0.00053
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=) rs61751550 0.00038
NM_017617.5(NOTCH1):c.1100-8C>T rs545088400 0.00030
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782 0.00020
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val) rs369067940 0.00013
NM_017617.5(NOTCH1):c.1669+125_1669+132del rs11278843
NM_017617.5(NOTCH1):c.2467+34C>G rs375643075
NM_017617.5(NOTCH1):c.2467+49A>G rs766029549
NM_017617.5(NOTCH1):c.2740+117G>A rs11574896
NM_017617.5(NOTCH1):c.2740+142del rs147437562
NM_017617.5(NOTCH1):c.2740+210G>A rs11145766
NM_017617.5(NOTCH1):c.3171+78dup rs35987207
NM_017617.5(NOTCH1):c.3171+98G>T rs113223361
NM_017617.5(NOTCH1):c.4014+130_4014+131dup rs10685223
NM_017617.5(NOTCH1):c.5018+55C>T rs11574903
NM_017617.5(NOTCH1):c.5167+189C>A rs113377894
NM_017617.5(NOTCH1):c.5638+287dup rs11403622
NM_017617.5(NOTCH1):c.5638+299T>C rs7867547
NM_017617.5(NOTCH1):c.5638+299dup rs77677481
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg) rs116317506
NM_017617.5(NOTCH1):c.865+3G>A rs1589069505

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