ClinVar Miner

List of variants in gene NOTCH1 reported as not provided by ITMI

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Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.5167+208C>T rs11574905 0.02952
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.5011G>A (p.Val1671Ile) rs2229968 0.00898
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.6991G>A (p.Ala2331Thr) rs111309246 0.00557
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972 0.00404
NM_017617.5(NOTCH1):c.5167+228T>G rs180916492 0.00342
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134 0.00318
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491 0.00171
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) rs188270459 0.00115
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His) rs138504021 0.00092
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 0.00074
NM_017617.5(NOTCH1):c.3401A>G (p.Gln1134Arg) rs374230681 0.00070
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211 0.00056
NM_017617.5(NOTCH1):c.6409C>T (p.Pro2137Ser) rs372698234 0.00046
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112 0.00041
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445 0.00035
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) rs559917218 0.00034
NM_017617.5(NOTCH1):c.5167+114C>T rs559253584 0.00034
NM_017617.5(NOTCH1):c.6898G>A (p.Gly2300Arg) rs587778573 0.00023
NM_017617.5(NOTCH1):c.5167+115G>A rs186415498 0.00022
NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del) rs587778559 0.00021
NM_017617.5(NOTCH1):c.6733G>A (p.Gly2245Arg) rs201613894 0.00019
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val) rs369067940 0.00013
NM_017617.5(NOTCH1):c.5015G>A (p.Arg1672His) rs372830543 0.00012
NM_017617.5(NOTCH1):c.7400C>T (p.Ser2467Leu) rs375025242 0.00011
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln) rs200521815 0.00010
NM_017617.5(NOTCH1):c.7645C>T (p.Arg2549Cys) rs200893930 0.00009
NM_017617.5(NOTCH1):c.2192G>A (p.Arg731Gln) rs587778558 0.00007
NM_017617.5(NOTCH1):c.3338C>T (p.Ala1113Val) rs377351349 0.00006
NM_017617.5(NOTCH1):c.2108G>A (p.Arg703His) rs561126575 0.00004
NM_017617.5(NOTCH1):c.4222G>A (p.Glu1408Lys) rs587778569 0.00004
NM_017617.5(NOTCH1):c.2635C>T (p.Arg879Trp) rs587778563 0.00003
NM_017617.5(NOTCH1):c.5167+108C>T rs587777960 0.00003
NM_017617.5(NOTCH1):c.5167+162G>A rs587777958 0.00003
NM_017617.5(NOTCH1):c.5167+174G>A rs587777957 0.00003
NM_017617.5(NOTCH1):c.3192C>G (p.Asp1064Glu) rs587778565 0.00001
NM_017617.5(NOTCH1):c.3211G>A (p.Gly1071Ser) rs587778566 0.00001
NM_017617.5(NOTCH1):c.3598G>A (p.Asp1200Asn) rs544640305 0.00001
NM_017617.5(NOTCH1):c.361A>G (p.Thr121Ala) rs587778570 0.00001
NM_017617.5(NOTCH1):c.4066C>T (p.Arg1356Cys) rs587778567 0.00001
NM_017617.5(NOTCH1):c.5167+142A>C rs587777959 0.00001
NM_017617.5(NOTCH1):c.5167+73G>A rs368493777 0.00001
NM_017617.5(NOTCH1):c.6769G>A (p.Ala2257Thr) rs587778572 0.00001
NM_017617.5(NOTCH1):c.826G>A (p.Val276Met) rs369721921 0.00001
NM_017617.5(NOTCH1):c.1702G>A (p.Asp568Asn) rs562413261
NM_017617.5(NOTCH1):c.1754C>T (p.Ala585Val) rs587778557
NM_017617.5(NOTCH1):c.2247C>G (p.Asn749Lys) rs587778560
NM_017617.5(NOTCH1):c.2377_2379del (p.Asn793del) rs587778561
NM_017617.5(NOTCH1):c.2473A>G (p.Thr825Ala) rs587778562
NM_017617.5(NOTCH1):c.2981A>G (p.Asn994Ser) rs587778564
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu) rs150343794
NM_017617.5(NOTCH1):c.4276C>T (p.His1426Tyr) rs587778568
NM_017617.5(NOTCH1):c.5167+189C>G rs113377894
NM_017617.5(NOTCH1):c.5167+189delinsGG rs587777956
NM_017617.5(NOTCH1):c.5167+43_5167+44delinsT rs587777961
NM_017617.5(NOTCH1):c.608G>A (p.Arg203His) rs182763411
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg) rs116317506
NM_017617.5(NOTCH1):c.6536G>A (p.Arg2179Gln) rs587778571

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