ClinVar Miner

List of variants in gene NOTCH2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 167
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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.4511+52C>T rs41302079 0.03499
NM_024408.4(NOTCH2):c.-214C>G rs782173943 0.03173
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.5929+113T>G rs10494233 0.02148
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.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.4305G>A (p.Arg1435=) rs6692009 0.01225
NM_024408.4(NOTCH2):c.2753-128C>T rs75324530 0.01082
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.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.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.5065A>T (p.Ile1689Phe) rs60854092 0.00150
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.1108+14G>A rs377649578 0.00098
NM_024408.4(NOTCH2):c.4897G>A (p.Val1633Ile) rs116321057 0.00085
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.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.215G>A (p.Arg72His) rs201838650 0.00006
NM_024408.4(NOTCH2):c.4155C>T (p.His1385=) rs764948417 0.00006
NM_024408.4(NOTCH2):c.5624G>A (p.Arg1875Gln) rs148613210 0.00004
NM_024408.4(NOTCH2):c.4688G>A (p.Arg1563His) rs767706572 0.00003
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.2993A>G (p.Asn998Ser) rs782277113 0.00001
NM_024408.4(NOTCH2):c.4457C>T (p.Thr1486Met) rs762374093 0.00001
NM_024408.4(NOTCH2):c.6027+47C>A rs375910689 0.00001
NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter) rs1325403451 0.00001
NM_024408.4(NOTCH2):c.760G>T (p.Gly254Trp) rs1553202314 0.00001
GRCh38/hg38 1p12(chr1:120014117-120092791)x3
GRCh38/hg38 1p12(chr1:120026791-120092791)x3
NC_000001.11:g.120069683C>A rs11487653
NC_000001.11:g.120069858C>A rs868940860
NM_024408.4(NOTCH2):c.1019A>G (p.Asp340Gly) rs1557826735
NM_024408.4(NOTCH2):c.1072G>T (p.Ala358Ser)
NM_024408.4(NOTCH2):c.1132G>A (p.Ala378Thr)
NM_024408.4(NOTCH2):c.1184T>A (p.Leu395Gln)
NM_024408.4(NOTCH2):c.1313G>A (p.Gly438Asp) rs781957465
NM_024408.4(NOTCH2):c.1318T>A (p.Phe440Ile)
NM_024408.4(NOTCH2):c.1436C>T (p.Thr479Ile) rs2101143667
NM_024408.4(NOTCH2):c.1775C>A (p.Thr592Asn) rs1651030166
NM_024408.4(NOTCH2):c.1823T>C (p.Ile608Thr)
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+216_2365+218dup rs10695258
NM_024408.4(NOTCH2):c.2365+216dup rs10695258
NM_024408.4(NOTCH2):c.2365+229del rs10695258
NM_024408.4(NOTCH2):c.2365+232C>G rs2453055
NM_024408.4(NOTCH2):c.2399C>T (p.Ala800Val)
NM_024408.4(NOTCH2):c.2480-188dup rs199631705
NM_024408.4(NOTCH2):c.2480-257G>A rs183533563
NM_024408.4(NOTCH2):c.2480-278dup rs1175930294
NM_024408.4(NOTCH2):c.2597A>T (p.Gln866Leu) rs2101115501
NM_024408.4(NOTCH2):c.2641C>A (p.Pro881Thr)
NM_024408.4(NOTCH2):c.2981+133_2981+135del rs112156947
NM_024408.4(NOTCH2):c.3467A>C (p.Asn1156Thr)
NM_024408.4(NOTCH2):c.3G>C (p.Met1Ile) rs56159748
NM_024408.4(NOTCH2):c.415G>C (p.Gly139Arg) rs1131692007
NM_024408.4(NOTCH2):c.4457del (p.Thr1486fs) rs1064793660
NM_024408.4(NOTCH2):c.4462G>C (p.Glu1488Gln) rs1131691315
NM_024408.4(NOTCH2):c.4752G>C (p.Gln1584His) rs1649366904
NM_024408.4(NOTCH2):c.4991T>A (p.Val1664Glu)
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.5195A>G (p.Gln1732Arg) rs2101154174
NM_024408.4(NOTCH2):c.5518G>A (p.Gly1840Ser) rs1064796810
NM_024408.4(NOTCH2):c.5723A>G (p.Asn1908Ser) rs1649194488
NM_024408.4(NOTCH2):c.5798G>A (p.Arg1933Gln)
NM_024408.4(NOTCH2):c.5894A>G (p.Asn1965Ser) rs2101148035
NM_024408.4(NOTCH2):c.5951C>A (p.Ala1984Glu)
NM_024408.4(NOTCH2):c.5954C>A (p.Ala1985Asp) rs2101146997
NM_024408.4(NOTCH2):c.61G>A (p.Ala21Thr) rs2603926
NM_024408.4(NOTCH2):c.6212C>T (p.Pro2071Leu) rs2101144758
NM_024408.4(NOTCH2):c.6424T>C (p.Ser2142Pro) rs2101144199
NM_024408.4(NOTCH2):c.6424_6427del (p.Ser2142fs) rs1064793515
NM_024408.4(NOTCH2):c.6533C>A (p.Ala2178Asp) rs770234870
NM_024408.4(NOTCH2):c.6588G>C (p.Gln2196His)
NM_024408.4(NOTCH2):c.6618A>C (p.Glu2206Asp) rs2101143543
NM_024408.4(NOTCH2):c.6659C>G (p.Ser2220Ter) rs886041979
NM_024408.4(NOTCH2):c.6671T>C (p.Leu2224Ser)
NM_024408.4(NOTCH2):c.6758G>A (p.Trp2253Ter) rs1553193524
NM_024408.4(NOTCH2):c.6787C>T (p.Gln2263Ter) rs886041862
NM_024408.4(NOTCH2):c.6806G>T (p.Gly2269Val) rs1553193512
NM_024408.4(NOTCH2):c.7021C>T (p.Gln2341Ter)
NM_024408.4(NOTCH2):c.7195G>A (p.Glu2399Lys)
NM_024408.4(NOTCH2):c.7205C>G (p.Pro2402Arg)
NM_024408.4(NOTCH2):c.752-45T>G rs2453040
NM_024408.4(NOTCH2):c.801C>A (p.His267Gln) rs1553202301
NM_024408.4(NOTCH2):c.820G>A (p.Val274Ile)
NM_024408.4(NOTCH2):c.846C>T (p.Tyr282=)
NM_024408.4(NOTCH2):c.965A>G (p.Tyr322Cys) rs1557826779
NM_024408.4(NOTCH2):c.983A>G (p.Asn328Ser) rs2101148388

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