ClinVar Miner

Variants in gene NOTCH1 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
2701 334 0 147 192 0 5 335

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 5 1 1 0
likely pathogenic 5 0 2 0 1
uncertain significance 1 2 0 90 116
likely benign 1 0 90 0 142
benign 0 1 116 142 0

All variants with conflicting interpretations #

Total variants: 335
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420 0.62688
NM_017617.5(NOTCH1):c.1555+10A>G rs11145767 0.47945
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=) rs10521 0.43502
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=) rs2229971 0.42989
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.2691C>T (p.Ala897=) rs11574895 0.01135
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00898
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526 0.00754
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.5124G>T (p.Ser1708=) rs35980907 0.00561
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.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.2542G>A (p.Glu848Lys) rs35136134 0.00318
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 0.00289
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.2124C>T (p.Tyr708=) rs376744729 0.00178
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.263G>A (p.Ser88Asn) rs191357265 0.00156
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=) rs192683347 0.00148
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=) rs200099319 0.00147
NM_017617.5(NOTCH1):c.2207+16G>A rs200956009 0.00139
NM_017617.5(NOTCH1):c.2970-20G>A rs367927174 0.00116
NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His) rs201768800 0.00110
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553 0.00093
NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln) rs202065858 0.00088
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=) rs61751555 0.00080
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.1962C>T (p.Thr654=) rs61751554 0.00073
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=) rs73668312 0.00070
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=) rs61733293 0.00068
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.6836C>T (p.Ala2279Val) rs200370953 0.00061
NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys) rs182330532 0.00058
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=) rs371365065 0.00058
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile) rs111627256 0.00058
NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=) rs201987555 0.00057
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211 0.00056
NM_017617.5(NOTCH1):c.3970G>A (p.Val1324Met) rs149057410 0.00048
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183 0.00045
NM_017617.5(NOTCH1):c.5403A>G (p.Ser1801=) rs201358664 0.00045
NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met) rs377535397 0.00044
NM_017617.5(NOTCH1):c.3901+3G>A rs373113999 0.00043
NM_017617.5(NOTCH1):c.7449G>A (p.Thr2483=) rs375728200 0.00043
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112 0.00041
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552 0.00040
NM_017617.5(NOTCH1):c.3326-11A>C rs377648586 0.00039
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val) rs61755043 0.00039
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=) rs61751550 0.00038
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445 0.00035
NM_017617.5(NOTCH1):c.432C>T (p.Cys144=) rs373713957 0.00035
NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=) rs369845924 0.00035
NM_017617.5(NOTCH1):c.1038C>T (p.His346=) rs376951155 0.00033
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=) rs374320445 0.00031
NM_017617.5(NOTCH1):c.1100-8C>T rs545088400 0.00030
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg) rs201620755 0.00029
NM_017617.5(NOTCH1):c.4548C>T (p.Phe1516=) rs199740882 0.00029
NM_017617.5(NOTCH1):c.5638+19A>G rs368675083 0.00026
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu) rs375897519 0.00024
NM_017617.5(NOTCH1):c.6975T>C (p.Pro2325=) rs200814776 0.00023
NM_017617.5(NOTCH1):c.3198G>A (p.Ser1066=) rs199892488 0.00022
NM_017617.5(NOTCH1):c.2970-9C>T rs568052902 0.00021
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met) rs202096917 0.00021
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782 0.00020
NM_017617.5(NOTCH1):c.2037C>T (p.Ile679=) rs367591933 0.00019
NM_017617.5(NOTCH1):c.2353+13C>T rs200756000 0.00019
NM_017617.5(NOTCH1):c.383G>A (p.Arg128His) rs754086897 0.00019
NM_017617.5(NOTCH1):c.5384+14G>A rs755122664 0.00019
NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn) rs200816814 0.00018
NM_017617.5(NOTCH1):c.454G>A (p.Gly152Ser) rs750242131 0.00017
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser) rs367825691 0.00017
NM_017617.5(NOTCH1):c.1689C>T (p.Cys563=) rs760548976 0.00016
NM_017617.5(NOTCH1):c.2191C>T (p.Arg731Trp) rs199666126 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.2353+14G>A rs140288481 0.00015
NM_017617.5(NOTCH1):c.591C>T (p.Asn197=) rs370684825 0.00015
NM_017617.5(NOTCH1):c.2354-5T>C rs371944522 0.00014
NM_017617.5(NOTCH1):c.3597C>T (p.Leu1199=) rs150666307 0.00014
NM_017617.5(NOTCH1):c.631A>G (p.Thr211Ala) rs376902925 0.00014
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn) rs200254239 0.00014
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val) rs369067940 0.00013
NM_017617.5(NOTCH1):c.851C>T (p.Pro284Leu) rs376104770 0.00013
NM_017617.5(NOTCH1):c.1146C>T (p.Asn382=) rs368665838 0.00012
NM_017617.5(NOTCH1):c.2982C>T (p.Asn994=) rs374100421 0.00012
NM_017617.5(NOTCH1):c.4179C>T (p.Gly1393=) rs200664704 0.00012
NM_017617.5(NOTCH1):c.5676G>A (p.Gly1892=) rs763584589 0.00012
NM_017617.5(NOTCH1):c.1837C>T (p.Arg613Cys) rs763988265 0.00011
NM_017617.5(NOTCH1):c.5273G>A (p.Arg1758His) rs373841359 0.00011
NM_017617.5(NOTCH1):c.7400C>T (p.Ser2467Leu) rs375025242 0.00011
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln) rs368011392 0.00010
NM_017617.5(NOTCH1):c.2969+14G>A rs112192550 0.00010
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=) rs61751559 0.00010
NM_017617.5(NOTCH1):c.4372G>A (p.Ala1458Thr) rs200495793 0.00010
NM_017617.5(NOTCH1):c.4537G>A (p.Gly1513Ser) rs765844768 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.1725C>T (p.Cys575=) rs369070550 0.00009
NM_017617.5(NOTCH1):c.4157C>T (p.Pro1386Leu) rs367710569 0.00009
NM_017617.5(NOTCH1):c.4652G>T (p.Ser1551Ile) rs774068657 0.00009
NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln) rs375065108 0.00009
NM_017617.5(NOTCH1):c.2295C>T (p.Gly765=) rs144066379 0.00008
NM_017617.5(NOTCH1):c.4373C>T (p.Ala1458Val) rs374352922 0.00008
NM_017617.5(NOTCH1):c.5018+13C>T rs752508890 0.00008
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu) rs199777870 0.00008
NM_017617.5(NOTCH1):c.3468C>T (p.Asn1156=) rs199793164 0.00007
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_017617.5(NOTCH1):c.4307C>T (p.Ala1436Val) rs371303106 0.00007
NM_017617.5(NOTCH1):c.4506C>T (p.Asp1502=) rs751191827 0.00007
NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met) rs543770603 0.00007
NM_017617.5(NOTCH1):c.4809C>T (p.Asn1603=) rs370523171 0.00007
NM_017617.5(NOTCH1):c.4927G>A (p.Ala1643Thr) rs566680728 0.00007
NM_017617.5(NOTCH1):c.6283C>T (p.Arg2095Cys) rs780873661 0.00007
NM_017617.5(NOTCH1):c.6583G>A (p.Gly2195Ser) rs376422513 0.00007
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met) rs369167555 0.00007
NM_017617.5(NOTCH1):c.1510C>T (p.Arg504Cys) rs752071569 0.00006
NM_017617.5(NOTCH1):c.1945C>A (p.Pro649Thr) rs780710009 0.00006
NM_017617.5(NOTCH1):c.2640C>T (p.His880=) rs374946182 0.00006
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser) rs763621169 0.00006
NM_017617.5(NOTCH1):c.3270C>T (p.Thr1090=) rs773990513 0.00006
NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser) rs768095251 0.00006
NM_017617.5(NOTCH1):c.3338C>T (p.Ala1113Val) rs377351349 0.00006
NM_017617.5(NOTCH1):c.339C>T (p.Asn113=) rs369947231 0.00006
NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His) rs377594681 0.00006
NM_017617.5(NOTCH1):c.448G>A (p.Ala150Thr) rs372660483 0.00006
NM_017617.5(NOTCH1):c.4718C>T (p.Thr1573Met) rs573864607 0.00006
NM_017617.5(NOTCH1):c.5718G>A (p.Ala1906=) rs369730620 0.00006
NM_017617.5(NOTCH1):c.5776C>T (p.Arg1926Cys) rs199652954 0.00006
NM_017617.5(NOTCH1):c.7130C>T (p.Pro2377Leu) rs761839390 0.00006
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala) rs536167222 0.00006
NM_017617.5(NOTCH1):c.975C>T (p.Asn325=) rs746111102 0.00006
NM_017617.5(NOTCH1):c.1664C>T (p.Thr555Met) rs746796894 0.00005
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=) rs199719103 0.00005
NM_017617.5(NOTCH1):c.2388G>A (p.Ala796=) rs561956078 0.00005
NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser) rs369259434 0.00005
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala) rs201053795 0.00005
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn) rs548083258 0.00005
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His) rs371068504 0.00005
NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu) rs745681787 0.00005
NM_017617.5(NOTCH1):c.4793G>A (p.Arg1598His) rs755124691 0.00005
NM_017617.5(NOTCH1):c.5248G>A (p.Val1750Met) rs368396893 0.00005
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr) rs567909904 0.00005
NM_017617.5(NOTCH1):c.7016C>A (p.Ala2339Asp) rs773134608 0.00005
NM_017617.5(NOTCH1):c.963C>T (p.Cys321=) rs201158068 0.00005
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.1903+10C>G rs375704312 0.00004
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met) rs199505287 0.00004
NM_017617.5(NOTCH1):c.2728G>A (p.Asp910Asn) rs765293859 0.00004
NM_017617.5(NOTCH1):c.3121G>A (p.Gly1041Ser) rs375260339 0.00004
NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val) rs200871631 0.00004
NM_017617.5(NOTCH1):c.3905G>A (p.Arg1302His) rs762091081 0.00004
NM_017617.5(NOTCH1):c.3980A>G (p.Asn1327Ser) rs751874720 0.00004
NM_017617.5(NOTCH1):c.4185C>T (p.Asn1395=) rs749570626 0.00004
NM_017617.5(NOTCH1):c.5168-4G>A rs751709616 0.00004
NM_017617.5(NOTCH1):c.5416A>G (p.Met1806Val) rs114479009 0.00004
NM_017617.5(NOTCH1):c.5542C>A (p.Leu1848Met) rs35652719 0.00004
NM_017617.5(NOTCH1):c.5724C>T (p.Ala1908=) rs555773558 0.00004
NM_017617.5(NOTCH1):c.573C>T (p.His191=) rs763733336 0.00004
NM_017617.5(NOTCH1):c.6222C>T (p.Tyr2074=) rs764551640 0.00004
NM_017617.5(NOTCH1):c.6383C>T (p.Pro2128Leu) rs770713134 0.00004
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg) rs761602495 0.00004
NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly) rs1060502236 0.00004
NM_017617.5(NOTCH1):c.7385C>T (p.Pro2462Leu) rs767435492 0.00004
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp) rs763902589 0.00004
NM_017617.5(NOTCH1):c.114A>G (p.Glu38=) rs375506915 0.00003
NM_017617.5(NOTCH1):c.1262A>G (p.Asn421Ser) rs928512979 0.00003
NM_017617.5(NOTCH1):c.1543G>C (p.Glu515Gln) rs749085650 0.00003
NM_017617.5(NOTCH1):c.1747G>A (p.Gly583Ser) rs757066417 0.00003
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys) rs749381544 0.00003
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu) rs576030298 0.00003
NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser) rs1379596542 0.00003
NM_017617.5(NOTCH1):c.2520C>T (p.Asn840=) rs546222078 0.00003
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His) rs777684045 0.00003
NM_017617.5(NOTCH1):c.3510+3G>A rs372739350 0.00003
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met) rs112900950 0.00003
NM_017617.5(NOTCH1):c.4077C>T (p.Asn1359=) rs775108554 0.00003
NM_017617.5(NOTCH1):c.4078G>A (p.Gly1360Ser) rs769493139 0.00003
NM_017617.5(NOTCH1):c.500C>T (p.Pro167Leu) rs370951369 0.00003
NM_017617.5(NOTCH1):c.5733C>T (p.Ser1911=) rs61751534 0.00003
NM_017617.5(NOTCH1):c.6294C>T (p.Arg2098=) rs777111928 0.00003
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser) rs201518848 0.00003
NM_017617.5(NOTCH1):c.7115G>A (p.Arg2372Gln) rs373119531 0.00003
NM_017617.5(NOTCH1):c.7279G>A (p.Gly2427Ser) rs370722609 0.00003
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu) rs757631575 0.00002
NM_017617.5(NOTCH1):c.1357G>A (p.Val453Ile) rs761629787 0.00002
NM_017617.5(NOTCH1):c.1953C>T (p.Asp651=) rs752168856 0.00002
NM_017617.5(NOTCH1):c.2297G>T (p.Gly766Val) rs374434131 0.00002
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr) rs200699541 0.00002
NM_017617.5(NOTCH1):c.3171+8C>T rs985717588 0.00002
NM_017617.5(NOTCH1):c.3701G>A (p.Arg1234Gln) rs773926521 0.00002
NM_017617.5(NOTCH1):c.4326G>A (p.Pro1442=) rs376469653 0.00002
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys) rs147841035 0.00002
NM_017617.5(NOTCH1):c.4746G>A (p.Pro1582=) rs886038974 0.00002
NM_017617.5(NOTCH1):c.5069C>T (p.Ser1690Leu) rs552065719 0.00002
NM_017617.5(NOTCH1):c.5398G>A (p.Ala1800Thr) rs569203312 0.00002
NM_017617.5(NOTCH1):c.6749C>T (p.Ala2250Val) rs777809068 0.00002
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys) rs752505638 0.00002
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp) rs751007903 0.00002
NM_017617.5(NOTCH1):c.7372C>A (p.Pro2458Thr) rs752802795 0.00002
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn) rs763187824 0.00002
NM_017617.5(NOTCH1):c.823G>A (p.Gly275Ser) rs371333249 0.00002
NM_017617.5(NOTCH1):c.1000G>A (p.Glu334Lys) rs779061035 0.00001
NM_017617.5(NOTCH1):c.1094G>A (p.Arg365His) rs775991013 0.00001
NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu) rs1037236860 0.00001
NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu) rs754529382 0.00001
NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met) rs373770404 0.00001
NM_017617.5(NOTCH1):c.123T>C (p.Asn41=) rs1207676067 0.00001
NM_017617.5(NOTCH1):c.1380G>A (p.Pro460=) rs368963607 0.00001
NM_017617.5(NOTCH1):c.157G>A (p.Val53Met) rs757497167 0.00001
NM_017617.5(NOTCH1):c.1669+5G>A rs771590616 0.00001
NM_017617.5(NOTCH1):c.1676C>T (p.Thr559Met) rs376055493 0.00001
NM_017617.5(NOTCH1):c.1750G>A (p.Val584Ile) rs763886355 0.00001
NM_017617.5(NOTCH1):c.1775G>A (p.Arg592His) rs544117297 0.00001
NM_017617.5(NOTCH1):c.1815C>T (p.Asn605=) rs781029850 0.00001
NM_017617.5(NOTCH1):c.1924C>G (p.Leu642Val) rs755740633 0.00001
NM_017617.5(NOTCH1):c.1929T>C (p.Asp643=) rs527323201 0.00001
NM_017617.5(NOTCH1):c.1972A>G (p.Lys658Glu) rs1260932753 0.00001
NM_017617.5(NOTCH1):c.1977C>A (p.Ile659=) rs766577980 0.00001
NM_017617.5(NOTCH1):c.2127C>T (p.His709=) rs755898711 0.00001
NM_017617.5(NOTCH1):c.2175C>T (p.Cys725=) rs770313470 0.00001
NM_017617.5(NOTCH1):c.244G>A (p.Val82Met) rs571831870 0.00001
NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr) rs767886377 0.00001
NM_017617.5(NOTCH1):c.2704C>T (p.Arg902Cys) rs1448345366 0.00001
NM_017617.5(NOTCH1):c.2753A>G (p.Asn918Ser) rs367586502 0.00001
NM_017617.5(NOTCH1):c.2882C>T (p.Thr961Met) rs377343669 0.00001
NM_017617.5(NOTCH1):c.2916C>T (p.Pro972=) rs754724517 0.00001
NM_017617.5(NOTCH1):c.3350A>G (p.Gln1117Arg) rs764816819 0.00001
NM_017617.5(NOTCH1):c.3404C>T (p.Ala1135Val) rs370300490 0.00001
NM_017617.5(NOTCH1):c.3482C>T (p.Thr1161Met) rs769903954 0.00001
NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met) rs750169914 0.00001
NM_017617.5(NOTCH1):c.3954T>A (p.Asn1318Lys) rs754634957 0.00001
NM_017617.5(NOTCH1):c.3991G>A (p.Gly1331Arg) rs769908800 0.00001
NM_017617.5(NOTCH1):c.4066C>T (p.Arg1356Cys) rs587778567 0.00001
NM_017617.5(NOTCH1):c.4309G>A (p.Gly1437Arg) rs780500109 0.00001
NM_017617.5(NOTCH1):c.4451A>G (p.Asn1484Ser) rs759828439 0.00001
NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met) rs369915496 0.00001
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val) rs774374213 0.00001
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val) rs748862853 0.00001
NM_017617.5(NOTCH1):c.4717A>G (p.Thr1573Ala) rs762492041 0.00001
NM_017617.5(NOTCH1):c.4880G>A (p.Arg1627His) rs946083212 0.00001
NM_017617.5(NOTCH1):c.5092G>A (p.Asp1698Asn) rs1417478070 0.00001
NM_017617.5(NOTCH1):c.5168-5C>T rs757370134 0.00001
NM_017617.5(NOTCH1):c.5413C>T (p.Leu1805Phe) rs775497405 0.00001
NM_017617.5(NOTCH1):c.5495C>G (p.Pro1832Arg) rs1425070721 0.00001
NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys) rs376689092 0.00001
NM_017617.5(NOTCH1):c.5572A>C (p.Met1858Leu) rs779337715 0.00001
NM_017617.5(NOTCH1):c.5690C>T (p.Thr1897Met) rs746237272 0.00001
NM_017617.5(NOTCH1):c.5784C>T (p.Gly1928=) rs773571672 0.00001
NM_017617.5(NOTCH1):c.5805C>T (p.Ala1935=) rs774693459 0.00001
NM_017617.5(NOTCH1):c.581C>T (p.Thr194Ile) rs760005580 0.00001
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser) rs1401319182 0.00001
NM_017617.5(NOTCH1):c.6422C>T (p.Ser2141Leu) rs767822693 0.00001
NM_017617.5(NOTCH1):c.6453C>T (p.Pro2151=) rs377302245 0.00001
NM_017617.5(NOTCH1):c.6582C>T (p.Ser2194=) rs200853719 0.00001
NM_017617.5(NOTCH1):c.6593C>T (p.Ser2198Leu) rs761562076 0.00001
NM_017617.5(NOTCH1):c.674C>G (p.Ser225Trp) rs553542677 0.00001
NM_017617.5(NOTCH1):c.6781G>T (p.Gly2261Cys) rs768817065 0.00001
NM_017617.5(NOTCH1):c.6789G>C (p.Arg2263=) rs1367699274 0.00001
NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser) rs1020747496 0.00001
NM_017617.5(NOTCH1):c.7047G>A (p.Pro2349=) rs775336930 0.00001
NM_017617.5(NOTCH1):c.707C>T (p.Thr236Met) rs537766290 0.00001
NM_017617.5(NOTCH1):c.7128G>T (p.Gln2376His) rs369935287 0.00001
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met) rs769693988 0.00001
NM_017617.5(NOTCH1):c.7150C>G (p.Gln2384Glu) rs375119074 0.00001
NM_017617.5(NOTCH1):c.7157A>G (p.Gln2386Arg) rs746658493 0.00001
NM_017617.5(NOTCH1):c.7189C>T (p.Leu2397=) rs374789141 0.00001
NM_017617.5(NOTCH1):c.7291C>T (p.Arg2431Trp) rs758410389 0.00001
NM_017617.5(NOTCH1):c.751G>A (p.Gly251Ser) rs755667439 0.00001
NM_017617.5(NOTCH1):c.7642G>A (p.Ala2548Thr) rs761156723 0.00001
NM_017617.5(NOTCH1):c.949G>A (p.Gly317Ser) rs749696049 0.00001
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro) rs200520088
NM_017617.5(NOTCH1):c.1220C>G (p.Pro407Arg) rs754529382
NM_017617.5(NOTCH1):c.1285T>C (p.Cys429Arg) rs587777736
NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter) rs869025494
NM_017617.5(NOTCH1):c.1567C>T (p.His523Tyr) rs572103199
NM_017617.5(NOTCH1):c.1701C>A (p.Ile567=) rs773932034
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn) rs373125283
NM_017617.5(NOTCH1):c.1741A>G (p.Lys581Glu) rs778992111
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr) rs775217381
NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser) rs1843232044
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser) rs1454630791
NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu) rs377286829
NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=) rs61751551
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del) rs779164170
NM_017617.5(NOTCH1):c.2705G>A (p.Arg902His) rs373075482
NM_017617.5(NOTCH1):c.2864G>A (p.Arg955His) rs557049479
NM_017617.5(NOTCH1):c.3172-5C>T rs762077987
NM_017617.5(NOTCH1):c.3262G>A (p.Gly1088Ser) rs531420022
NM_017617.5(NOTCH1):c.3283G>A (p.Asp1095Asn)
NM_017617.5(NOTCH1):c.3579G>T (p.Gln1193His) rs61751544
NM_017617.5(NOTCH1):c.3853G>T (p.Val1285Leu) rs756972680
NM_017617.5(NOTCH1):c.3915G>A (p.Glu1305=) rs1554728133
NM_017617.5(NOTCH1):c.3970G>T (p.Val1324Leu) rs149057410
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met) rs201215245
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu) rs150343794
NM_017617.5(NOTCH1):c.4120T>C (p.Cys1374Arg) rs864622060
NM_017617.5(NOTCH1):c.4335C>G (p.Ile1445Met) rs373960609
NM_017617.5(NOTCH1):c.433G>A (p.Ala145Thr) rs1388726872
NM_017617.5(NOTCH1):c.4549G>A (p.Asp1517Asn) rs1554727954
NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg) rs367838230
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.5155G>A (p.Glu1719Lys) rs750085425
NM_017617.5(NOTCH1):c.5438G>T (p.Trp1813Leu) rs755659037
NM_017617.5(NOTCH1):c.5472+19G>C rs755674060
NM_017617.5(NOTCH1):c.5476G>A (p.Glu1826Lys) rs374103443
NM_017617.5(NOTCH1):c.620G>A (p.Arg207His) rs779118023
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.6454G>C (p.Gly2152Arg) rs116317506
NM_017617.5(NOTCH1):c.6597C>G (p.Pro2199=) rs374640663
NM_017617.5(NOTCH1):c.6739C>G (p.Leu2247Val) rs377165086
NM_017617.5(NOTCH1):c.6767C>T (p.Ala2256Val) rs759225800
NM_017617.5(NOTCH1):c.7232CAC[4] (p.Pro2415del) rs762336270
NM_017617.5(NOTCH1):c.743-1G>T rs587777735
NM_017617.5(NOTCH1):c.750C>A (p.Thr250=) rs375772590

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