ClinVar Miner

List of variants in gene NOTCH1 reported as likely benign for Cardiovascular phenotype

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Gene type:
ClinVar version:
Total variants: 119
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HGVS dbSNP
NM_017617.5(NOTCH1):c.1038C>T (p.His346=) rs376951155
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=) rs192683347
NM_017617.5(NOTCH1):c.114A>G (p.Glu38=) rs375506915
NM_017617.5(NOTCH1):c.123T>C (p.Asn41=) rs1207676067
NM_017617.5(NOTCH1):c.1374G>A (p.Ser458=) rs886039016
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=) rs61733293
NM_017617.5(NOTCH1):c.156C>T (p.Phe52=) rs536299678
NM_017617.5(NOTCH1):c.165G>A (p.Pro55=) rs373793124
NM_017617.5(NOTCH1):c.1689C>T (p.Cys563=) rs760548976
NM_017617.5(NOTCH1):c.1701C>A (p.Ile567=) rs773932034
NM_017617.5(NOTCH1):c.1815C>T (p.Asn605=) rs781029850
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His) rs138504021
NM_017617.5(NOTCH1):c.18G>A (p.Ala6=) rs752471556
NM_017617.5(NOTCH1):c.1914C>T (p.Cys638=) rs373068883
NM_017617.5(NOTCH1):c.1950C>T (p.Cys650=) rs147086700
NM_017617.5(NOTCH1):c.1962C>T (p.Thr654=) rs61751554
NM_017617.5(NOTCH1):c.2037C>T (p.Ile679=) rs367591933
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553
NM_017617.5(NOTCH1):c.2112C>T (p.Cys704=) rs757495549
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=) rs376744729
NM_017617.5(NOTCH1):c.2136C>A (p.Thr712=) rs369346436
NM_017617.5(NOTCH1):c.2388G>A (p.Ala796=) rs561956078
NM_017617.5(NOTCH1):c.2442G>A (p.Lys814=) rs544653892
NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=) rs61751551
NM_017617.5(NOTCH1):c.2604C>T (p.Val868=) rs115235667
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn) rs191357265
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=) rs200332386
NM_017617.5(NOTCH1):c.2916C>T (p.Pro972=) rs754724517
NM_017617.5(NOTCH1):c.3042G>A (p.Thr1014=) rs371532644
NM_017617.5(NOTCH1):c.3099C>T (p.Gly1033=) rs775567314
NM_017617.5(NOTCH1):c.3114C>T (p.Asp1038=) rs769755236
NM_017617.5(NOTCH1):c.3115G>A (p.Gly1039Ser) rs200207651
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211
NM_017617.5(NOTCH1):c.3198G>A (p.Ser1066=) rs199892488
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546
NM_017617.5(NOTCH1):c.3405G>A (p.Ala1135=) rs192914380
NM_017617.5(NOTCH1):c.3486C>T (p.Asp1162=) rs771905237
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782
NM_017617.5(NOTCH1):c.3597C>T (p.Leu1199=) rs150666307
NM_017617.5(NOTCH1):c.3789C>T (p.Arg1263=) rs369004626
NM_017617.5(NOTCH1):c.3831C>T (p.Asp1277=) rs374989581
NM_017617.5(NOTCH1):c.3852C>T (p.Cys1284=) rs377289044
NM_017617.5(NOTCH1):c.3861C>T (p.Arg1287=) rs758031388
NM_017617.5(NOTCH1):c.3909C>T (p.Arg1303=) rs370604672
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=) rs61751559
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu) rs150343794
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=) rs200099319
NM_017617.5(NOTCH1):c.4077C>T (p.Asn1359=) rs775108554
NM_017617.5(NOTCH1):c.4185C>T (p.Asn1395=) rs749570626
NM_017617.5(NOTCH1):c.4326G>A (p.Pro1442=) rs376469653
NM_017617.5(NOTCH1):c.432C>T (p.Cys144=) rs373713957
NM_017617.5(NOTCH1):c.4344G>A (p.Ala1448=) rs763497791
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=) rs202231073
NM_017617.5(NOTCH1):c.4506C>T (p.Asp1502=) rs751191827
NM_017617.5(NOTCH1):c.4542C>T (p.Cys1514=) rs1554727957
NM_017617.5(NOTCH1):c.4548C>T (p.Phe1516=) rs199740882
NM_017617.5(NOTCH1):c.4551C>T (p.Asp1517=) rs766737406
NM_017617.5(NOTCH1):c.4626C>T (p.Asp1542=) rs142375989
NM_017617.5(NOTCH1):c.4698C>T (p.Pro1566=) rs200462746
NM_017617.5(NOTCH1):c.4710G>A (p.Ala1570=) rs773978978
NM_017617.5(NOTCH1):c.4746G>A (p.Pro1582=) rs886038974
NM_017617.5(NOTCH1):c.4809C>T (p.Asn1603=) rs370523171
NM_017617.5(NOTCH1):c.4827C>T (p.Asp1609=) rs113634293
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=) rs371365065
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.5073G>A (p.Gln1691=) rs61751538
NM_017617.5(NOTCH1):c.5100C>T (p.Ala1700=) rs376495459
NM_017617.5(NOTCH1):c.5103A>G (p.Ala1701=) rs776610176
NM_017617.5(NOTCH1):c.5124G>A (p.Ser1708=) rs35980907
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536
NM_017617.5(NOTCH1):c.5208C>T (p.Phe1736=) rs781386640
NM_017617.5(NOTCH1):c.5403A>G (p.Ser1801=) rs201358664
NM_017617.5(NOTCH1):c.5445C>T (p.Asp1815=) rs61751535
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=) rs73668312
NM_017617.5(NOTCH1):c.5562C>T (p.Arg1854=) rs777125560
NM_017617.5(NOTCH1):c.558C>T (p.Pro186=) rs756111268
NM_017617.5(NOTCH1):c.5673C>T (p.Ser1891=) rs2229972
NM_017617.5(NOTCH1):c.5676G>A (p.Gly1892=) rs763584589
NM_017617.5(NOTCH1):c.573C>T (p.His191=) rs763733336
NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=) rs73668311
NM_017617.5(NOTCH1):c.597C>T (p.Val199=) rs747342494
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356
NM_017617.5(NOTCH1):c.6018C>T (p.Ala2006=) rs748935957
NM_017617.5(NOTCH1):c.6054C>T (p.His2018=) rs202198360
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=) rs188357478
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.6228C>T (p.Thr2076=) rs531156367
NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=) rs201987555
NM_017617.5(NOTCH1):c.6396G>C (p.Thr2132=) rs554843595
NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=) rs369845924
NM_017617.5(NOTCH1):c.645C>T (p.Cys215=) rs974424401
NM_017617.5(NOTCH1):c.6591C>G (p.Leu2197=) rs767440286
NM_017617.5(NOTCH1):c.6597C>G (p.Pro2199=) rs374640663
NM_017617.5(NOTCH1):c.6597C>T (p.Pro2199=) rs374640663
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.6744C>T (p.Asn2248=) rs372771288
NM_017617.5(NOTCH1):c.6753C>T (p.Ala2251=) rs542875894
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) rs61751488
NM_017617.5(NOTCH1):c.6960G>A (p.Pro2320=) rs768457106
NM_017617.5(NOTCH1):c.7047G>A (p.Pro2349=) rs775336930
NM_017617.5(NOTCH1):c.7090A>G (p.Ser2364Gly) rs201045092
NM_017617.5(NOTCH1):c.7289G>C (p.Gly2430Ala) rs36049318
NM_017617.5(NOTCH1):c.7338G>A (p.Leu2446=) rs35320927
NM_017617.5(NOTCH1):c.7390C>T (p.Leu2464=) rs372760677
NM_017617.5(NOTCH1):c.7401G>T (p.Ser2467=) rs371306178
NM_017617.5(NOTCH1):c.7425C>T (p.Pro2475=) rs772308416
NM_017617.5(NOTCH1):c.7449G>A (p.Thr2483=) rs375728200
NM_017617.5(NOTCH1):c.750C>A (p.Thr250=) rs375772590
NM_017617.5(NOTCH1):c.7536G>A (p.Pro2512=) rs192299793
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.7667A>G (p.Ter2556=) rs190691338
NM_017617.5(NOTCH1):c.999C>T (p.Ser333=) rs751646144

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