ClinVar Miner

List of variants in gene NOTCH2 studied for not specified

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Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.7341T>A (p.Gly2447=) rs6685892 0.17147
NM_024408.4(NOTCH2):c.3234C>T (p.Cys1078=) rs7543643 0.06759
NM_024408.4(NOTCH2):c.6421C>T (p.Leu2141=) rs3795666 0.02137
NM_024408.4(NOTCH2):c.2599+12G>C rs74117573 0.01309
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.3117G>A (p.Thr1039=) rs36084504 0.00817
NM_024408.4(NOTCH2):c.4311C>T (p.Gly1437=) rs34561092 0.00733
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.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.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.6479A>G (p.Tyr2160Cys) rs35216058 0.00111
NM_024408.4(NOTCH2):c.4897G>A (p.Val1633Ile) rs116321057 0.00085
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.1396C>A (p.Gln466Lys) rs141935585 0.00047
NM_024408.4(NOTCH2):c.2479+34G>A rs368529597 0.00047
NM_024408.4(NOTCH2):c.3779G>A (p.Arg1260His) rs75423398 0.00036
NM_024408.4(NOTCH2):c.7086C>T (p.Asp2362=) rs150657714 0.00029
NM_024408.4(NOTCH2):c.2042T>A (p.Ile681Asn) rs74882029 0.00026
NM_024408.4(NOTCH2):c.5161G>A (p.Ala1721Thr) rs115013051 0.00022
NM_024408.4(NOTCH2):c.6997G>C (p.Ala2333Pro) rs143506822 0.00021
NM_024408.4(NOTCH2):c.6486C>T (p.Ser2162=) rs372865598 0.00018
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln) rs146014987 0.00017
NM_024408.4(NOTCH2):c.3479A>G (p.His1160Arg) rs142876168 0.00015
NM_024408.4(NOTCH2):c.4114C>T (p.Arg1372Trp) rs587778575 0.00011
NM_024408.4(NOTCH2):c.2196A>C (p.Gly732=) rs782101275 0.00010
NM_024408.4(NOTCH2):c.3995G>A (p.Arg1332His) rs587609362 0.00010
NM_024408.4(NOTCH2):c.1681+9C>A rs192886452 0.00009
NM_024408.4(NOTCH2):c.7190C>G (p.Ala2397Gly) rs143197714 0.00009
NM_024408.4(NOTCH2):c.1315G>A (p.Ala439Thr) rs199565938 0.00008
NM_024408.4(NOTCH2):c.3143G>A (p.Arg1048His) rs142831890 0.00007
NM_024408.4(NOTCH2):c.1443G>A (p.Leu481=) rs587674318 0.00006
NM_024408.4(NOTCH2):c.215G>A (p.Arg72His) rs201838650 0.00006
NM_024408.4(NOTCH2):c.5314G>A (p.Glu1772Lys) rs587778576 0.00006
NM_024408.4(NOTCH2):c.4820G>A (p.Arg1607His) rs372710038 0.00005
NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala) rs587778578 0.00005
NM_024408.4(NOTCH2):c.2479+149C>G rs782240220 0.00003
NM_024408.4(NOTCH2):c.2573C>G (p.Thr858Ser) rs782631431 0.00003
NM_024408.4(NOTCH2):c.6974A>G (p.Gln2325Arg) rs587778577 0.00003
NM_024408.4(NOTCH2):c.137A>G (p.Asn46Ser) rs61788900 0.00002
NM_024408.4(NOTCH2):c.2479+225A>G rs782788145 0.00002
NM_024408.4(NOTCH2):c.6924G>A (p.Gln2308=) rs376191548 0.00002
NM_024408.4(NOTCH2):c.1517A>G (p.Asn506Ser) rs73004269 0.00001
NM_024408.4(NOTCH2):c.2026+6G>T rs587731563 0.00001
NM_024408.4(NOTCH2):c.3388G>A (p.Gly1130Ser) rs782078365 0.00001
NM_024408.4(NOTCH2):c.3441G>A (p.Glu1147=) rs371875533 0.00001
NM_024408.4(NOTCH2):c.3700C>T (p.His1234Tyr) rs797044475 0.00001
NM_024408.4(NOTCH2):c.4145C>A (p.Pro1382His) rs1418033447 0.00001
NM_024408.4(NOTCH2):c.6469C>A (p.Pro2157Thr) rs587640708 0.00001
NM_024408.4(NOTCH2):c.6516C>T (p.Ser2172=) rs587733506 0.00001
NC_000001.10:g.(120529706_120539619)_(120548212_120572528)dup
NM_024408.4(NOTCH2):c.1109-14C>T
NM_024408.4(NOTCH2):c.112G>A (p.Glu38Lys) rs61788901
NM_024408.4(NOTCH2):c.15C>G (p.Arg5=) rs4021006
NM_024408.4(NOTCH2):c.15C>T (p.Arg5=) rs4021006
NM_024408.4(NOTCH2):c.17_18del (p.Pro6fs) rs372504208
NM_024408.4(NOTCH2):c.3011A>G (p.Asp1004Gly)
NM_024408.4(NOTCH2):c.4202A>G (p.Gln1401Arg) rs2101162597
NM_024408.4(NOTCH2):c.4273T>C (p.Cys1425Arg)
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.5705A>G (p.Asp1902Gly)
NM_024408.4(NOTCH2):c.57C>G (p.Cys19Trp) rs11810554
NM_024408.4(NOTCH2):c.6156T>C (p.Asp2052=)
NM_024408.4(NOTCH2):c.61G>A (p.Ala21Thr) rs2603926
NM_024408.4(NOTCH2):c.6806G>T (p.Gly2269Val) rs1553193512
NM_024408.4(NOTCH2):c.7046C>T (p.Pro2349Leu)
NM_024408.4(NOTCH2):c.7209T>A (p.Ser2403Arg) rs587778579

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