ClinVar Miner

List of variants in gene NOTCH2 reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.1108+30A>G rs2493409 0.97622
NM_024408.4(NOTCH2):c.3183+271T>G rs4274109 0.97618
NM_024408.4(NOTCH2):c.3337+86A>G rs2453057 0.97605
NM_024408.4(NOTCH2):c.3892+175G>A rs2493393 0.97605
NM_024408.4(NOTCH2):c.3523-58A>G rs5025718 0.65855
NM_024408.4(NOTCH2):c.5311-210G>A rs835574 0.34505
NM_024408.4(NOTCH2):c.1567+196A>G rs2493410 0.31756
NM_024408.4(NOTCH2):c.4859+152C>T rs2793830 0.31554
NM_024408.4(NOTCH2):c.1568-335T>C rs2453044 0.22723
NM_024408.4(NOTCH2):c.2753-44C>T rs2493420 0.22074
NM_024408.4(NOTCH2):c.5310+171G>A rs835573 0.22065
NM_024408.4(NOTCH2):c.415+257T>C rs2596065 0.21000
NM_024408.4(NOTCH2):c.3655+97G>T rs2453056 0.18120
NM_024408.4(NOTCH2):c.7341T>A (p.Gly2447=) rs6685892 0.17147
NM_024408.4(NOTCH2):c.3184-76G>A rs2453058 0.17132
NM_024408.4(NOTCH2):c.3656-22G>A rs2493392 0.17120
NM_024408.4(NOTCH2):c.1915+89C>T rs2934381 0.17105
NM_024408.4(NOTCH2):c.5782-77G>A rs2793829 0.17093
NM_024408.4(NOTCH2):c.2365+47T>A rs7534585 0.17014
NM_024408.4(NOTCH2):c.2365+39T>G rs7534586 0.17007
NM_024408.4(NOTCH2):c.4005+45A>G rs17258579 0.10623
NM_024408.4(NOTCH2):c.5930-249T>C rs3897840 0.08755
NM_024408.4(NOTCH2):c.2026+251A>G rs7553305 0.06768
NM_024408.4(NOTCH2):c.3234C>T (p.Cys1078=) rs7543643 0.06759
NM_024408.4(NOTCH2):c.4860-183T>A rs17024519 0.04913
NM_024408.4(NOTCH2):c.5311-24G>A rs41306195 0.04756
NM_024408.4(NOTCH2):c.3523-125A>C rs17024536 0.04670
NM_024408.4(NOTCH2):c.2026+303T>C rs17024564 0.04669
NM_024408.4(NOTCH2):c.1915+165C>T rs17024577 0.04667
NM_024408.4(NOTCH2):c.5480-232G>A rs56342935 0.04664
NM_024408.4(NOTCH2):c.-23C>A rs57122008 0.04253
NM_024408.4(NOTCH2):c.2480-246G>T rs75023863 0.03994
NM_024408.4(NOTCH2):c.4512-147C>G rs17024521 0.03729
NM_024408.4(NOTCH2):c.6028-116C>T rs41277624 0.03531
NM_024408.4(NOTCH2):c.2982-118A>G rs77938086 0.02780
NM_024408.4(NOTCH2):c.939C>T (p.Gly313=) rs7533978 0.02663
NM_024408.4(NOTCH2):c.6421C>T (p.Leu2141=) rs3795666 0.02137
NM_024408.4(NOTCH2):c.3183+288G>A rs112932691 0.02010
NM_024408.4(NOTCH2):c.4305G>A (p.Arg1435=) rs6692009 0.01225
NM_024408.4(NOTCH2):c.4014C>T (p.Ser1338=) rs17024525 0.00984
NM_024408.4(NOTCH2):c.272G>T (p.Arg91Leu) rs143195893 0.00899
NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala) rs75831573 0.00493
NM_024408.4(NOTCH2):c.3980A>G (p.Asp1327Gly) rs61752484 0.00477
NM_024408.4(NOTCH2):c.5214-49A>G rs143658192 0.00418
NM_024408.4(NOTCH2):c.435G>A (p.Thr145=) rs1615676 0.00405
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282 0.00375
NM_024408.4(NOTCH2):c.1567+12C>T rs78223268 0.00306
NM_024408.4(NOTCH2):c.2585C>T (p.Ala862Val) rs35656321 0.00266
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val) rs147223770 0.00258
NM_024408.4(NOTCH2):c.3519C>T (p.Cys1173=) rs115325955 0.00245
NM_024408.4(NOTCH2):c.7042T>C (p.Leu2348=) rs61734328 0.00241
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
NM_024408.4(NOTCH2):c.7G>T (p.Ala3Ser) rs782113557 0.00218
NM_024408.4(NOTCH2):c.415+43G>T rs200812134 0.00211
NM_024408.4(NOTCH2):c.-31G>C rs782424628 0.00203
NM_024408.4(NOTCH2):c.1568-17C>T rs373665797 0.00198
NM_024408.4(NOTCH2):c.4122C>T (p.Cys1374=) rs74117504 0.00143
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met) rs150516342 0.00141
NM_024408.4(NOTCH2):c.6094C>A (p.His2032Asn) rs143236410 0.00131
NM_024408.4(NOTCH2):c.6479A>G (p.Tyr2160Cys) rs35216058 0.00111
NM_024408.4(NOTCH2):c.1108+14G>A rs377649578 0.00098
NM_024408.4(NOTCH2):c.2830G>T (p.Asp944Tyr) rs151130105 0.00067
NM_024408.4(NOTCH2):c.2981+11A>G rs148899572 0.00063
NM_024408.4(NOTCH2):c.423G>A (p.Glu141=) rs149906722 0.00058
NM_024408.4(NOTCH2):c.1109-26T>G rs137866235 0.00055
NM_024408.4(NOTCH2):c.1541A>G (p.Asn514Ser) rs34308573 0.00052
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn) rs144047610 0.00050
NM_024408.4(NOTCH2):c.5479+46A>G rs200559571 0.00048
NM_024408.4(NOTCH2):c.1396C>A (p.Gln466Lys) rs141935585 0.00047
NM_024408.4(NOTCH2):c.2479+34G>A rs368529597 0.00047
NM_024408.4(NOTCH2):c.3655+54A>G rs587664838 0.00047
NM_024408.4(NOTCH2):c.3779G>A (p.Arg1260His) rs75423398 0.00036
NM_024408.4(NOTCH2):c.2042T>A (p.Ile681Asn) rs74882029 0.00026
NM_024408.4(NOTCH2):c.5480-25T>C rs74771463 0.00014
NM_024408.4(NOTCH2):c.4860-37A>C rs201778348 0.00009
NM_024408.4(NOTCH2):c.4842A>G (p.Gln1614=) rs36124579 0.00005
NM_024408.4(NOTCH2):c.137A>G (p.Asn46Ser) rs61788900 0.00002
NM_024408.4(NOTCH2):c.6924G>A (p.Gln2308=) rs376191548 0.00002
NM_024408.4(NOTCH2):c.2026+6G>T rs587731563 0.00001
NM_024408.4(NOTCH2):c.2480-49C>T rs374826343 0.00001
NM_024408.4(NOTCH2):c.6027+47C>A rs375910689 0.00001
NC_000001.11:g.120069683C>A rs11487653
NC_000001.11:g.120069858C>A rs868940860
NM_024408.4(NOTCH2):c.112G>A (p.Glu38Lys) rs61788901
NM_024408.4(NOTCH2):c.15C>T (p.Arg5=) rs4021006
NM_024408.4(NOTCH2):c.1915+201C>G rs10923929
NM_024408.4(NOTCH2):c.2027-231C>G rs4659250
NM_024408.4(NOTCH2):c.2365+216_2365+217dup rs10695258
NM_024408.4(NOTCH2):c.2365+216dup rs10695258
NM_024408.4(NOTCH2):c.2365+232C>G rs2453055
NM_024408.4(NOTCH2):c.2480-188dup rs199631705
NM_024408.4(NOTCH2):c.3G>C (p.Met1Ile) rs56159748
NM_024408.4(NOTCH2):c.4859+191G>A
NM_024408.4(NOTCH2):c.4859+54G>C
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile) rs17024517
NM_024408.4(NOTCH2):c.4999G>T (p.Val1667Phe) rs17024517
NM_024408.4(NOTCH2):c.57C>G (p.Cys19Trp) rs11810554
NM_024408.4(NOTCH2):c.61G>A (p.Ala21Thr) rs2603926
NM_024408.4(NOTCH2):c.752-45T>G rs2453040

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