ClinVar Miner

List of variants in gene NOTCH1 reported as likely benign for Adams-Oliver syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 166
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HGVS dbSNP
NM_017617.5(NOTCH1):c.1038C>T (p.His346=) rs376951155
NM_017617.5(NOTCH1):c.1100-7T>C rs376603720
NM_017617.5(NOTCH1):c.1125A>G (p.Ala375=) rs371954544
NM_017617.5(NOTCH1):c.1146C>T (p.Asn382=) rs368665838
NM_017617.5(NOTCH1):c.1185G>A (p.Lys395=) rs774399901
NM_017617.5(NOTCH1):c.1255+9C>T rs775401272
NM_017617.5(NOTCH1):c.1256-8C>G rs1052776009
NM_017617.5(NOTCH1):c.1293C>T (p.Asn431=) rs372751855
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=) rs61733293
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=) rs61751555
NM_017617.5(NOTCH1):c.1441+8G>A rs765031085
NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His) rs201768800
NM_017617.5(NOTCH1):c.153C>T (p.Ala51=) rs748048002
NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met) rs377535397
NM_017617.5(NOTCH1):c.1567C>T (p.His523Tyr) rs572103199
NM_017617.5(NOTCH1):c.1590C>T (p.Asp530=) rs562807473
NM_017617.5(NOTCH1):c.1749C>T (p.Gly583=) rs751367001
NM_017617.5(NOTCH1):c.1752C>T (p.Val584=) rs902251832
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His) rs138504021
NM_017617.5(NOTCH1):c.1863C>T (p.Arg621=) rs749374016
NM_017617.5(NOTCH1):c.1903+10C>G rs375704312
NM_017617.5(NOTCH1):c.1914C>T (p.Cys638=) rs373068883
NM_017617.5(NOTCH1):c.1956G>A (p.Ser652=) rs376101458
NM_017617.5(NOTCH1):c.2014+7G>A rs562353347
NM_017617.5(NOTCH1):c.2037C>T (p.Ile679=) rs367591933
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.2127C>T (p.His709=) rs755898711
NM_017617.5(NOTCH1):c.2292C>T (p.Asn764=) rs775201110
NM_017617.5(NOTCH1):c.2340G>A (p.Arg780=) rs767935604
NM_017617.5(NOTCH1):c.2354-5T>C rs371944522
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=) rs199719103
NM_017617.5(NOTCH1):c.2388G>A (p.Ala796=) rs561956078
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg) rs201620755
NM_017617.5(NOTCH1):c.246G>C (p.Val82=) rs1055942607
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) rs559917218
NM_017617.5(NOTCH1):c.2511C>T (p.Pro837=) rs201521828
NM_017617.5(NOTCH1):c.2588-9G>T rs757973986
NM_017617.5(NOTCH1):c.2640C>T (p.His880=) rs374946182
NM_017617.5(NOTCH1):c.2724C>T (p.Ile908=) rs61751547
NM_017617.5(NOTCH1):c.2727C>T (p.Asp909=) rs752854629
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017617.5(NOTCH1):c.2745G>A (p.Pro915=) rs766331471
NM_017617.5(NOTCH1):c.2784G>A (p.Thr928=) rs200082362
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=) rs200332386
NM_017617.5(NOTCH1):c.2868C>T (p.Asn956=) rs760227470
NM_017617.5(NOTCH1):c.2970-9C>T rs568052902
NM_017617.5(NOTCH1):c.3114C>T (p.Asp1038=) rs769755236
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211
NM_017617.5(NOTCH1):c.3150C>A (p.Gly1050=) rs1060504523
NM_017617.5(NOTCH1):c.3171+9G>A rs377541723
NM_017617.5(NOTCH1):c.3198G>A (p.Ser1066=) rs199892488
NM_017617.5(NOTCH1):c.3213C>T (p.Gly1071=) rs528993886
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.3325+10T>C rs1060504526
NM_017617.5(NOTCH1):c.339C>T (p.Asn113=) rs369947231
NM_017617.5(NOTCH1):c.3405G>A (p.Ala1135=) rs192914380
NM_017617.5(NOTCH1):c.3555C>T (p.Asp1185=) rs530064649
NM_017617.5(NOTCH1):c.3582C>T (p.Asn1194=) rs746547529
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552
NM_017617.5(NOTCH1):c.3644-5C>T rs371070297
NM_017617.5(NOTCH1):c.3663C>T (p.Asn1221=) rs780527525
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846
NM_017617.5(NOTCH1):c.3768G>T (p.Pro1256=) rs779987984
NM_017617.5(NOTCH1):c.3807C>T (p.Asn1269=) rs1008389563
NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys) rs182330532
NM_017617.5(NOTCH1):c.3901+10G>A rs561404862
NM_017617.5(NOTCH1):c.3901+9C>T rs370537711
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=) rs61751559
NM_017617.5(NOTCH1):c.3918C>T (p.Ser1306=) rs770781173
NM_017617.5(NOTCH1):c.3966C>T (p.Cys1322=) rs753290862
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491
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.4096G>A (p.Gly1366Ser) rs778270588
NM_017617.5(NOTCH1):c.4101G>A (p.Pro1367=) rs374921637
NM_017617.5(NOTCH1):c.4143C>T (p.Pro1381=) rs539950718
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600
NM_017617.5(NOTCH1):c.4185C>T (p.Asn1395=) rs749570626
NM_017617.5(NOTCH1):c.4197C>T (p.Asn1399=) rs989398598
NM_017617.5(NOTCH1):c.4263C>T (p.Asn1421=) rs547687521
NM_017617.5(NOTCH1):c.4314C>T (p.Arg1438=) rs757256477
NM_017617.5(NOTCH1):c.4371C>T (p.Asp1457=) rs368677987
NM_017617.5(NOTCH1):c.4374G>A (p.Ala1458=) rs777768691
NM_017617.5(NOTCH1):c.4413G>A (p.Ala1471=) rs756867304
NM_017617.5(NOTCH1):c.4506C>T (p.Asp1502=) rs751191827
NM_017617.5(NOTCH1):c.4551C>T (p.Asp1517=) rs766737406
NM_017617.5(NOTCH1):c.4586+10C>T rs760225110
NM_017617.5(NOTCH1):c.4635C>T (p.Cys1545=) rs775752102
NM_017617.5(NOTCH1):c.4656G>A (p.Ala1552=) rs375091696
NM_017617.5(NOTCH1):c.4710G>A (p.Ala1570=) rs773978978
NM_017617.5(NOTCH1):c.4794C>T (p.Arg1598=) rs558708604
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.4917C>T (p.Ala1639=) rs371365065
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968
NM_017617.5(NOTCH1):c.5019-6G>A rs978561896
NM_017617.5(NOTCH1):c.501A>T (p.Pro167=) rs1554730657
NM_017617.5(NOTCH1):c.5103A>G (p.Ala1701=) rs776610176
NM_017617.5(NOTCH1):c.5115G>A (p.Ala1705=) rs201797774
NM_017617.5(NOTCH1):c.5118C>T (p.Leu1706=) rs747037396
NM_017617.5(NOTCH1):c.5168-4G>A rs751709616
NM_017617.5(NOTCH1):c.5190G>A (p.Pro1730=) rs369854704
NM_017617.5(NOTCH1):c.5220G>A (p.Ala1740=) rs758562368
NM_017617.5(NOTCH1):c.5307C>T (p.Phe1769=) rs1400804279
NM_017617.5(NOTCH1):c.5361C>T (p.Leu1787=) rs760147171
NM_017617.5(NOTCH1):c.5403A>G (p.Ser1801=) rs201358664
NM_017617.5(NOTCH1):c.5421C>T (p.Asp1807=) rs376590737
NM_017617.5(NOTCH1):c.5505C>T (p.Asp1835=) rs760776152
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.5676G>A (p.Gly1892=) rs763584589
NM_017617.5(NOTCH1):c.5685G>A (p.Leu1895=) rs1060504521
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.5781G>A (p.Thr1927=) rs367587437
NM_017617.5(NOTCH1):c.5916C>T (p.Asp1972=) rs1045892978
NM_017617.5(NOTCH1):c.591C>T (p.Asn197=) rs370684825
NM_017617.5(NOTCH1):c.5934+8G>A rs747822127
NM_017617.5(NOTCH1):c.6083-5C>T rs199786076
NM_017617.5(NOTCH1):c.6084C>G (p.Gly2028=) rs1060504524
NM_017617.5(NOTCH1):c.608G>A (p.Arg203His) rs182763411
NM_017617.5(NOTCH1):c.6094C>T (p.Leu2032=) rs1060504525
NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=) rs369167693
NM_017617.5(NOTCH1):c.6111C>T (p.Ala2037=) rs749488166
NM_017617.5(NOTCH1):c.6153G>A (p.Gly2051=) rs1554826678
NM_017617.5(NOTCH1):c.6177C>T (p.Asn2059=) rs992614355
NM_017617.5(NOTCH1):c.6180+9G>A rs200371378
NM_017617.5(NOTCH1):c.6180+9G>T rs200371378
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.6291G>A (p.Pro2097=) rs201987555
NM_017617.5(NOTCH1):c.6294C>T (p.Arg2098=) rs777111928
NM_017617.5(NOTCH1):c.6321C>T (p.His2107=) rs532201830
NM_017617.5(NOTCH1):c.6396G>A (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.64C>T (p.Pro22Ser) rs114832250
NM_017617.5(NOTCH1):c.6568C>T (p.Leu2190=) rs1037034230
NM_017617.5(NOTCH1):c.6570G>C (p.Leu2190=) rs200630233
NM_017617.5(NOTCH1):c.6573G>A (p.Leu2191=) rs758591166
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.6836C>T (p.Ala2279Val) rs200370953
NM_017617.5(NOTCH1):c.687C>T (p.Asn229=) rs535217359
NM_017617.5(NOTCH1):c.6976C>T (p.Leu2326=) rs756811995
NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln) rs202065858
NM_017617.5(NOTCH1):c.6993A>G (p.Ala2331=) rs1554826428
NM_017617.5(NOTCH1):c.7017C>T (p.Ala2339=) rs1342843228
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112
NM_017617.5(NOTCH1):c.702C>T (p.Arg234=) rs1392150131
NM_017617.5(NOTCH1):c.7090A>G (p.Ser2364Gly) rs201045092
NM_017617.5(NOTCH1):c.7161A>T (p.Pro2387=) rs1413339098
NM_017617.5(NOTCH1):c.7224G>A (p.Leu2408=) rs761927126
NM_017617.5(NOTCH1):c.7251G>A (p.Pro2417=) rs368498380
NM_017617.5(NOTCH1):c.750C>A (p.Thr250=) rs375772590
NM_017617.5(NOTCH1):c.7539C>T (p.Ser2513=) rs758931699
NM_017617.5(NOTCH1):c.7569G>A (p.Ser2523=) rs534623042
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.912T>C (p.Asn304=) rs1060504522
NM_017617.5(NOTCH1):c.975C>T (p.Asn325=) rs746111102

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