ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.4511+52C>T rs41302079 0.03499
NM_024408.4(NOTCH2):c.-214C>G rs782173943 0.03173
NM_024408.4(NOTCH2):c.5929+113T>G rs10494233 0.02148
NM_024408.4(NOTCH2):c.6421C>T (p.Leu2141=) rs3795666 0.02137
NM_024408.4(NOTCH2):c.875-166G>C rs60615590 0.01388
NM_024408.4(NOTCH2):c.2599+12G>C rs74117573 0.01309
NM_024408.4(NOTCH2):c.4860-280G>A rs17258565 0.01249
NM_024408.4(NOTCH2):c.5310+195T>G rs3850868 0.01232
NM_024408.4(NOTCH2):c.4006-54A>G rs6658796 0.01227
NM_024408.4(NOTCH2):c.2753-128C>T rs75324530 0.01082
NM_024408.4(NOTCH2):c.272G>T (p.Arg91Leu) rs143195893 0.00899
NM_024408.4(NOTCH2):c.874+312C>T rs2453041 0.00894
NM_024408.4(NOTCH2):c.3117G>A (p.Thr1039=) rs36084504 0.00817
NM_024408.4(NOTCH2):c.74-215C>T rs587747605 0.00805
NM_024408.4(NOTCH2):c.4311C>T (p.Gly1437=) rs34561092 0.00733
NM_024408.4(NOTCH2):c.155+50A>G rs782139262 0.00633
NM_024408.4(NOTCH2):c.1453+67C>G rs144716627 0.00600
NM_024408.4(NOTCH2):c.456C>T (p.Pro152=) rs143287927 0.00531
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.435G>A (p.Thr145=) rs1615676 0.00405
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282 0.00375
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.7G>T (p.Ala3Ser) rs782113557 0.00218
NM_024408.4(NOTCH2):c.5065A>T (p.Ile1689Phe) rs60854092 0.00150
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.4897G>A (p.Val1633Ile) rs116321057 0.00085
NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys) rs147522485 0.00056
NM_024408.4(NOTCH2):c.1567+8C>T rs372367275 0.00052
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn) rs144047610 0.00050
NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr) rs140311741 0.00039
NM_024408.4(NOTCH2):c.7086C>T (p.Asp2362=) rs150657714 0.00029
NM_024408.4(NOTCH2):c.5103A>G (p.Lys1701=) rs201233415 0.00023
NM_024408.4(NOTCH2):c.6486C>T (p.Ser2162=) rs372865598 0.00018
NM_024408.4(NOTCH2):c.3913G>A (p.Val1305Ile) rs587688280 0.00017
NM_024408.4(NOTCH2):c.3479A>G (p.His1160Arg) rs142876168 0.00015
NM_024408.4(NOTCH2):c.4113C>G (p.Pro1371=) rs141657857 0.00014
NM_024408.4(NOTCH2):c.786T>C (p.Asp262=) rs374224226 0.00012
NM_024408.4(NOTCH2):c.6957G>A (p.Ala2319=) rs369891453 0.00011
NM_024408.4(NOTCH2):c.6477G>A (p.Thr2159=) rs145566650 0.00009
NM_024408.4(NOTCH2):c.6945T>C (p.Ile2315=) rs771232139 0.00009
NM_024408.4(NOTCH2):c.1315G>A (p.Ala439Thr) rs199565938 0.00008
NM_024408.4(NOTCH2):c.4155C>T (p.His1385=) rs764948417 0.00006
NM_024408.4(NOTCH2):c.4688G>A (p.Arg1563His) rs767706572 0.00003
NM_024408.4(NOTCH2):c.6087G>C (p.Leu2029=) rs141606816 0.00003
NM_024408.4(NOTCH2):c.1911G>A (p.Thr637=) rs369028361 0.00002
NM_024408.4(NOTCH2):c.1032C>T (p.Phe344=) rs782702694 0.00001
NM_024408.4(NOTCH2):c.2026+6G>T rs587731563 0.00001
NM_024408.4(NOTCH2):c.3441G>A (p.Glu1147=) rs371875533 0.00001
NM_024408.4(NOTCH2):c.6222C>T (p.Thr2074=) rs764335447 0.00001
NM_024408.4(NOTCH2):c.144A>G (p.Thr48=)
NM_024408.4(NOTCH2):c.15C>G (p.Arg5=) rs4021006
NM_024408.4(NOTCH2):c.1677C>A (p.Ala559=) rs1553199554
NM_024408.4(NOTCH2):c.2226G>A (p.Lys742=) rs1570688503
NM_024408.4(NOTCH2):c.2331T>C (p.Asn777=)
NM_024408.4(NOTCH2):c.2365+216_2365+218dup rs10695258
NM_024408.4(NOTCH2):c.2365+229del rs10695258
NM_024408.4(NOTCH2):c.2451C>T (p.Tyr817=)
NM_024408.4(NOTCH2):c.2479+230A>C
NM_024408.4(NOTCH2):c.2480-257G>A rs183533563
NM_024408.4(NOTCH2):c.2480-278dup rs1175930294
NM_024408.4(NOTCH2):c.2496A>G (p.Thr832=)
NM_024408.4(NOTCH2):c.266C>T (p.Thr89Met)
NM_024408.4(NOTCH2):c.273A>G (p.Arg91=)
NM_024408.4(NOTCH2):c.2796T>G (p.Thr932=)
NM_024408.4(NOTCH2):c.2981+133_2981+135del rs112156947
NM_024408.4(NOTCH2):c.312A>G (p.Ser104=) rs2793999
NM_024408.4(NOTCH2):c.3144C>T (p.Arg1048=)
NM_024408.4(NOTCH2):c.3222C>T (p.Asn1074=) rs1570674390
NM_024408.4(NOTCH2):c.387T>C (p.Tyr129=)
NM_024408.4(NOTCH2):c.4077C>T (p.His1359=)
NM_024408.4(NOTCH2):c.434C>T (p.Thr145Met)
NM_024408.4(NOTCH2):c.4860-164A>G
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile) rs17024517
NM_024408.4(NOTCH2):c.516A>G (p.Thr172=)
NM_024408.4(NOTCH2):c.57C>T (p.Cys19=) rs11810554
NM_024408.4(NOTCH2):c.6198T>C (p.Asn2066=) rs750891624
NM_024408.4(NOTCH2):c.6363G>A (p.Lys2121=)
NM_024408.4(NOTCH2):c.6498C>T (p.Ser2166=)
NM_024408.4(NOTCH2):c.660C>A (p.Ser220Arg) rs112650847
NM_024408.4(NOTCH2):c.684A>G (p.Ser228=)
NM_024408.4(NOTCH2):c.6918T>G (p.Thr2306=)
NM_024408.4(NOTCH2):c.69G>C (p.Ala23=)
NM_024408.4(NOTCH2):c.703A>T (p.Thr235Ser)
NM_024408.4(NOTCH2):c.7218T>C (p.Gly2406=)
NM_024408.4(NOTCH2):c.751+289G>C
NM_024408.4(NOTCH2):c.8C>T (p.Ala3Val) rs200646249

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