ClinVar Miner

List of variants in gene NOTCH1 studied for NOTCH1-related disorder

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 228
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.5168-10G>A rs199903655 0.00645
NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=) rs61751490 0.00638
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250 0.00587
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser) rs61733294 0.00484
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) rs61751488 0.00369
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=) rs61751540 0.00358
NM_017617.5(NOTCH1):c.4827C>T (p.Asp1609=) rs113634293 0.00308
NM_017617.5(NOTCH1):c.5673C>T (p.Ser1891=) rs2229972 0.00289
NM_017617.5(NOTCH1):c.7338G>A (p.Leu2446=) rs35320927 0.00277
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539 0.00182
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=) rs376744729 0.00165
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn) rs191357265 0.00156
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=) rs200099319 0.00147
NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His) rs201768800 0.00110
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) rs188270459 0.00103
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553 0.00096
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 0.00071
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=) rs73668312 0.00070
NM_017617.5(NOTCH1):c.3115G>A (p.Gly1039Ser) rs200207651 0.00063
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211 0.00060
NM_017617.5(NOTCH1):c.4898G>A (p.Arg1633His) rs375018022 0.00059
NM_017617.5(NOTCH1):c.6363C>T (p.Ser2121=) rs61751533 0.00059
NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys) rs182330532 0.00058
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile) rs111627256 0.00057
NM_017617.5(NOTCH1):c.6836C>T (p.Ala2279Val) rs200370953 0.00056
NM_017617.5(NOTCH1):c.4653C>T (p.Ser1551=) rs368495371 0.00051
NM_017617.5(NOTCH1):c.5781G>A (p.Thr1927=) rs367587437 0.00048
NM_017617.5(NOTCH1):c.2505C>A (p.Pro835=) rs111756273 0.00047
NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met) rs377535397 0.00044
NM_017617.5(NOTCH1):c.4262A>G (p.Asn1421Ser) rs76473337 0.00044
NM_017617.5(NOTCH1):c.6409C>T (p.Pro2137Ser) rs372698234 0.00044
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112 0.00042
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552 0.00040
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) rs559917218 0.00037
NM_017617.5(NOTCH1):c.6636C>T (p.Asp2212=) rs370606059 0.00035
NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=) rs369845924 0.00034
NM_017617.5(NOTCH1):c.3042G>A (p.Thr1014=) rs371532644 0.00032
NM_017617.5(NOTCH1):c.2226C>T (p.Asp742=) rs201889382 0.00029
NM_017617.5(NOTCH1):c.4548C>T (p.Phe1516=) rs199740882 0.00029
NM_017617.5(NOTCH1):c.1100-8C>T rs545088400 0.00028
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg) rs201620755 0.00026
NM_017617.5(NOTCH1):c.1950C>T (p.Cys650=) rs147086700 0.00024
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu) rs375897519 0.00024
NM_017617.5(NOTCH1):c.2970-9C>T rs568052902 0.00021
NM_017617.5(NOTCH1):c.7387G>A (p.Ala2463Thr) rs537210445 0.00021
NM_017617.5(NOTCH1):c.2433C>T (p.Ala811=) rs61751552 0.00020
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782 0.00020
NM_017617.5(NOTCH1):c.7298T>C (p.Phe2433Ser) rs201493851 0.00020
NM_017617.5(NOTCH1):c.3644-5C>T rs371070297 0.00018
NM_017617.5(NOTCH1):c.1556-9C>T rs150834418 0.00017
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn) rs548083258 0.00017
NM_017617.5(NOTCH1):c.1689C>T (p.Cys563=) rs760548976 0.00016
NM_017617.5(NOTCH1):c.2148G>A (p.Glu716=) rs376468003 0.00016
NM_017617.5(NOTCH1):c.2718C>T (p.Thr906=) rs200243788 0.00016
NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu) rs201163739 0.00016
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=) rs374944458 0.00016
NM_017617.5(NOTCH1):c.454G>A (p.Gly152Ser) rs750242131 0.00015
NM_017617.5(NOTCH1):c.2085C>T (p.Asp695=) rs200573958 0.00014
NM_017617.5(NOTCH1):c.2354-5T>C rs371944522 0.00014
NM_017617.5(NOTCH1):c.631A>G (p.Thr211Ala) rs376902925 0.00014
NM_017617.5(NOTCH1):c.2206G>A (p.Gly736Arg) rs201662530 0.00013
NM_017617.5(NOTCH1):c.1116C>G (p.Leu372=) rs372623058 0.00011
NM_017617.5(NOTCH1):c.5273G>A (p.Arg1758His) rs373841359 0.00011
NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met) rs200562991 0.00010
NM_017617.5(NOTCH1):c.4096G>A (p.Gly1366Ser) rs778270588 0.00010
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro) rs201779159 0.00010
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln) rs200521815 0.00010
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=) rs61751559 0.00009
NM_017617.5(NOTCH1):c.4586+10C>T rs760225110 0.00009
NM_017617.5(NOTCH1):c.999C>T (p.Ser333=) rs751646144 0.00009
NM_017617.5(NOTCH1):c.3519C>T (p.Ala1173=) rs765576108 0.00008
NM_017617.5(NOTCH1):c.4921C>T (p.Pro1641Ser) rs535702482 0.00008
NM_017617.5(NOTCH1):c.3468C>T (p.Asn1156=) rs199793164 0.00007
NM_017617.5(NOTCH1):c.4506C>T (p.Asp1502=) rs751191827 0.00007
NM_017617.5(NOTCH1):c.4551C>T (p.Asp1517=) rs766737406 0.00007
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met) rs369167555 0.00007
NM_017617.5(NOTCH1):c.2108G>A (p.Arg703His) rs561126575 0.00006
NM_017617.5(NOTCH1):c.2620G>A (p.Val874Ile) rs776698364 0.00006
NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val) rs200871631 0.00006
NM_017617.5(NOTCH1):c.5718G>A (p.Ala1906=) rs369730620 0.00006
NM_017617.5(NOTCH1):c.1125A>G (p.Ala375=) rs371954544 0.00005
NM_017617.5(NOTCH1):c.1670-8C>T rs527374781 0.00005
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His) rs371068504 0.00005
NM_017617.5(NOTCH1):c.4981C>T (p.Arg1661Trp) rs998433493 0.00005
NM_017617.5(NOTCH1):c.5223G>A (p.Ala1741=) rs766444406 0.00005
NM_017617.5(NOTCH1):c.5853C>T (p.Ser1951=) rs373902356 0.00005
NM_017617.5(NOTCH1):c.6298A>G (p.Ile2100Val) rs543533126 0.00005
NM_017617.5(NOTCH1):c.963C>T (p.Cys321=) rs201158068 0.00005
NM_017617.5(NOTCH1):c.*7C>T rs758237894 0.00004
NM_017617.5(NOTCH1):c.1670-10C>T rs751747178 0.00004
NM_017617.5(NOTCH1):c.1869C>T (p.Asn623=) rs376726823 0.00004
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met) rs199505287 0.00004
NM_017617.5(NOTCH1):c.3980A>G (p.Asn1327Ser) rs751874720 0.00004
NM_017617.5(NOTCH1):c.4800G>A (p.Leu1600=) rs761609069 0.00004
NM_017617.5(NOTCH1):c.6384G>A (p.Pro2128=) rs746762310 0.00004
NM_017617.5(NOTCH1):c.7386C>T (p.Pro2462=) rs369470875 0.00004
NM_017617.5(NOTCH1):c.826G>A (p.Val276Met) rs369721921 0.00004
NM_017617.5(NOTCH1):c.865+10C>T rs760702631 0.00004
NM_017617.5(NOTCH1):c.2654A>G (p.Gln885Arg) rs764327751 0.00003
NM_017617.5(NOTCH1):c.2665G>A (p.Gly889Ser) rs557590721 0.00003
NM_017617.5(NOTCH1):c.3012G>A (p.Ser1004=) rs371301397 0.00003
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His) rs777684045 0.00003
NM_017617.5(NOTCH1):c.4078G>A (p.Gly1360Ser) rs769493139 0.00003
NM_017617.5(NOTCH1):c.4326G>A (p.Pro1442=) rs376469653 0.00003
NM_017617.5(NOTCH1):c.5019C>G (p.Gly1673=) rs754785324 0.00003
NM_017617.5(NOTCH1):c.5733C>T (p.Ser1911=) rs61751534 0.00003
NM_017617.5(NOTCH1):c.6228C>T (p.Thr2076=) rs531156367 0.00003
NM_017617.5(NOTCH1):c.6377G>C (p.Gly2126Ala) rs776496915 0.00003
NM_017617.5(NOTCH1):c.6770C>T (p.Ala2257Val) rs377112509 0.00003
NM_017617.5(NOTCH1):c.1368C>T (p.Cys456=) rs559866409 0.00002
NM_017617.5(NOTCH1):c.2588-9G>T rs757973986 0.00002
NM_017617.5(NOTCH1):c.2903C>T (p.Thr968Met) rs781201059 0.00002
NM_017617.5(NOTCH1):c.363G>A (p.Thr121=) rs777400734 0.00002
NM_017617.5(NOTCH1):c.3679C>T (p.Pro1227Ser) rs777652834 0.00002
NM_017617.5(NOTCH1):c.5285G>A (p.Arg1762Gln) rs942439472 0.00002
NM_017617.5(NOTCH1):c.714C>T (p.Asp238=) rs532058137 0.00002
NM_017617.5(NOTCH1):c.7463A>G (p.His2488Arg) rs1208693439 0.00002
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn) rs763187824 0.00002
NM_017617.5(NOTCH1):c.81C>T (p.Pro27=) rs1293509255 0.00002
NM_017617.5(NOTCH1):c.1113C>T (p.His371=) rs2540461244 0.00001
NM_017617.5(NOTCH1):c.1119C>T (p.Asn373=) rs368588745 0.00001
NM_017617.5(NOTCH1):c.1384C>G (p.Gln462Glu) rs747502723 0.00001
NM_017617.5(NOTCH1):c.1629C>T (p.Cys543=) rs1180264404 0.00001
NM_017617.5(NOTCH1):c.1648T>G (p.Tyr550Asp) rs1843262478 0.00001
NM_017617.5(NOTCH1):c.197C>T (p.Thr66Ile) rs752133245 0.00001
NM_017617.5(NOTCH1):c.2115C>T (p.Pro705=) rs777838108 0.00001
NM_017617.5(NOTCH1):c.2207+9C>T rs751315476 0.00001
NM_017617.5(NOTCH1):c.231G>A (p.Val77=) rs774288166 0.00001
NM_017617.5(NOTCH1):c.2501C>T (p.Ala834Val) rs202144877 0.00001
NM_017617.5(NOTCH1):c.2594C>T (p.Thr865Ile) rs1342719071 0.00001
NM_017617.5(NOTCH1):c.2643C>T (p.Gly881=) rs750777328 0.00001
NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr) rs767886377 0.00001
NM_017617.5(NOTCH1):c.3061G>A (p.Asp1021Asn) rs760908627 0.00001
NM_017617.5(NOTCH1):c.3197C>T (p.Ser1066Leu) rs771739312 0.00001
NM_017617.5(NOTCH1):c.3213C>T (p.Gly1071=) rs528993886 0.00001
NM_017617.5(NOTCH1):c.3441C>T (p.Asp1147=) rs377488165 0.00001
NM_017617.5(NOTCH1):c.3556G>A (p.Glu1186Lys) rs1013688544 0.00001
NM_017617.5(NOTCH1):c.365T>G (p.Leu122Arg) rs984769025 0.00001
NM_017617.5(NOTCH1):c.3684C>T (p.Pro1228=) rs753711100 0.00001
NM_017617.5(NOTCH1):c.3723C>T (p.Asn1241=) rs369637862 0.00001
NM_017617.5(NOTCH1):c.389C>T (p.Pro130Leu) rs750539322 0.00001
NM_017617.5(NOTCH1):c.428C>T (p.Pro143Leu) rs1228192276 0.00001
NM_017617.5(NOTCH1):c.4371C>T (p.Asp1457=) rs368677987 0.00001
NM_017617.5(NOTCH1):c.4374G>A (p.Ala1458=) rs777768691 0.00001
NM_017617.5(NOTCH1):c.4451A>G (p.Asn1484Ser) rs759828439 0.00001
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val) rs748862853 0.00001
NM_017617.5(NOTCH1):c.4881C>T (p.Arg1627=) rs372753656 0.00001
NM_017617.5(NOTCH1):c.5205C>T (p.His1735=) rs746253027 0.00001
NM_017617.5(NOTCH1):c.5452C>G (p.Leu1818Val) rs1064796983 0.00001
NM_017617.5(NOTCH1):c.5472+10G>A rs1484527670 0.00001
NM_017617.5(NOTCH1):c.5568T>C (p.Ser1856=) rs535478432 0.00001
NM_017617.5(NOTCH1):c.6408G>A (p.Ser2136=) rs933773128 0.00001
NM_017617.5(NOTCH1):c.6645G>A (p.Ser2215=) rs745339419 0.00001
NM_017617.5(NOTCH1):c.7011A>C (p.Thr2337=) rs766464482 0.00001
NM_017617.5(NOTCH1):c.7291C>T (p.Arg2431Trp) rs758410389 0.00001
NM_017617.5(NOTCH1):c.7417G>A (p.Val2473Ile) rs1358523874 0.00001
NM_017617.5(NOTCH1):c.7457C>T (p.Ser2486Leu) rs1183279486 0.00001
NM_017617.5(NOTCH1):c.7495A>C (p.Ser2499Arg) rs1842911325 0.00001
NM_017617.5(NOTCH1):c.805G>A (p.Gly269Arg) rs768524076 0.00001
NM_017617.5(NOTCH1):c.82G>A (p.Gly28Ser) rs1388609508 0.00001
NM_017617.5(NOTCH1):c.1063G>T (p.Ala355Ser) rs2540461962
NM_017617.5(NOTCH1):c.1193G>A (p.Cys398Tyr)
NM_017617.5(NOTCH1):c.1226G>A (p.Cys409Tyr) rs2133369690
NM_017617.5(NOTCH1):c.1289_1291dup (p.Ile430_Asn431insIle)
NM_017617.5(NOTCH1):c.1506T>A (p.Asn502Lys) rs2540459645
NM_017617.5(NOTCH1):c.1537C>T (p.Gln513Ter) rs2540459597
NM_017617.5(NOTCH1):c.1556-23TCCCC[2] rs747100045
NM_017617.5(NOTCH1):c.1556-8G>A rs776434236
NM_017617.5(NOTCH1):c.1903+7G>T rs760116150
NM_017617.5(NOTCH1):c.2015-1G>A
NM_017617.5(NOTCH1):c.201dup (p.Cys68fs)
NM_017617.5(NOTCH1):c.2330G>A (p.Cys777Tyr) rs2540452830
NM_017617.5(NOTCH1):c.2387C>T (p.Ala796Val) rs753036935
NM_017617.5(NOTCH1):c.2394C>T (p.Asn798=) rs1589064348
NM_017617.5(NOTCH1):c.2415G>C (p.Thr805=) rs774284462
NM_017617.5(NOTCH1):c.2433C>G (p.Ala811=) rs61751552
NM_017617.5(NOTCH1):c.2436del (p.Tyr813fs) rs35768530
NM_017617.5(NOTCH1):c.2451C>T (p.Cys817=)
NM_017617.5(NOTCH1):c.2491G>A (p.Ala831Thr) rs1221479422
NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=) rs61751551
NM_017617.5(NOTCH1):c.2536C>T (p.Gln846Ter) rs1589063073
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del) rs779164170
NM_017617.5(NOTCH1):c.2811C>T (p.Phe937=) rs2133351104
NM_017617.5(NOTCH1):c.3109C>G (p.Gln1037Glu) rs878855025
NM_017617.5(NOTCH1):c.3170del (p.Gln1057fs) rs2540444114
NM_017617.5(NOTCH1):c.3332_3347del (p.Asp1111fs)
NM_017617.5(NOTCH1):c.3424T>C (p.Cys1142Arg) rs2540442355
NM_017617.5(NOTCH1):c.3507C>T (p.Cys1169=) rs1236247464
NM_017617.5(NOTCH1):c.3684del (p.Val1229fs) rs2133344193
NM_017617.5(NOTCH1):c.3813C>T (p.Cys1271=) rs1471864651
NM_017617.5(NOTCH1):c.3856C>T (p.Gln1286Ter) rs2133343317
NM_017617.5(NOTCH1):c.3997A>G (p.Ile1333Val) rs772084075
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu) rs150343794
NM_017617.5(NOTCH1):c.4249C>T (p.Pro1417Ser) rs1481418937
NM_017617.5(NOTCH1):c.4266G>A (p.Gly1422=) rs1366218391
NM_017617.5(NOTCH1):c.4315_4318dup (p.Ile1440fs) rs2540437588
NM_017617.5(NOTCH1):c.4444A>G (p.Asn1482Asp) rs1843065776
NM_017617.5(NOTCH1):c.4549G>C (p.Asp1517His) rs1554727954
NM_017617.5(NOTCH1):c.4772A>G (p.His1591Arg)
NM_017617.5(NOTCH1):c.4906G>T (p.Glu1636Ter) rs764006572
NM_017617.5(NOTCH1):c.5016C>T (p.Arg1672=) rs1251609154
NM_017617.5(NOTCH1):c.5078T>C (p.Phe1693Ser) rs2133333494
NM_017617.5(NOTCH1):c.5088C>A (p.Ala1696=)
NM_017617.5(NOTCH1):c.5385-8C>G rs758203250
NM_017617.5(NOTCH1):c.5506G>C (p.Asp1836His)
NM_017617.5(NOTCH1):c.5580C>A (p.Pro1860=) rs2540429627
NM_017617.5(NOTCH1):c.5751C>A (p.Gly1917=) rs752199771
NM_017617.5(NOTCH1):c.5914G>C (p.Asp1972His) rs1414380652
NM_017617.5(NOTCH1):c.619C>T (p.Arg207Cys) rs748300035
NM_017617.5(NOTCH1):c.6219C>G (p.Ser2073Arg) rs1162682313
NM_017617.5(NOTCH1):c.6538A>G (p.Arg2180Gly) rs2540422242
NM_017617.5(NOTCH1):c.6597C>G (p.Pro2199=) rs374640663
NM_017617.5(NOTCH1):c.677C>T (p.Pro226Leu) rs1843395886
NM_017617.5(NOTCH1):c.7042G>A (p.Gly2348Ser) rs2540421222
NM_017617.5(NOTCH1):c.7071C>T (p.Ser2357=) rs61751487
NM_017617.5(NOTCH1):c.7232C>G (p.Pro2411Arg) rs1169641185
NM_017617.5(NOTCH1):c.728G>T (p.Cys243Phe) rs2133377241
NM_017617.5(NOTCH1):c.7376A>G (p.Gln2459Arg)
NM_017617.5(NOTCH1):c.738G>C (p.Leu246=) rs1212311457
NM_017617.5(NOTCH1):c.7485C>A (p.Asp2495Glu) rs2133314562
NM_017617.5(NOTCH1):c.750C>A (p.Thr250=) rs375772590
NM_017617.5(NOTCH1):c.774C>T (p.Ile258=) rs764542894
NM_017617.5(NOTCH1):c.817G>A (p.Val273Met)
NM_017617.5(NOTCH1):c.984T>C (p.Thr328=)

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