ClinVar Miner

List of variants in gene NOTCH2 reported as benign for primary osteolysis

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.1108+30A>G rs2493409 0.97622
NM_024408.4(NOTCH2):c.2753-44C>T rs2493420 0.22074
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.939C>T (p.Gly313=) rs7533978 0.02663
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.7075C>G (p.Pro2359Ala) rs75831573 0.00493
NM_024408.4(NOTCH2):c.3980A>G (p.Asp1327Gly) rs61752484 0.00477
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.1568-17C>T rs373665797 0.00198
NM_024408.4(NOTCH2):c.5065A>T (p.Ile1689Phe) rs60854092 0.00150
NM_024408.4(NOTCH2):c.3752G>A (p.Arg1251His) rs138832326 0.00145
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.6479A>G (p.Tyr2160Cys) rs35216058 0.00111
NM_024408.4(NOTCH2):c.1108+14G>A rs377649578 0.00098
NM_024408.4(NOTCH2):c.5074A>G (p.Ile1692Val) rs143134864 0.00074
NM_024408.4(NOTCH2):c.2752+17G>C rs370708756 0.00066
NM_024408.4(NOTCH2):c.2981+11A>G rs148899572 0.00063
NM_024408.4(NOTCH2):c.1541A>G (p.Asn514Ser) rs34308573 0.00052
NM_024408.4(NOTCH2):c.1396C>A (p.Gln466Lys) rs141935585 0.00047
NM_024408.4(NOTCH2):c.3779G>A (p.Arg1260His) rs75423398 0.00036
NM_024408.4(NOTCH2):c.3034T>C (p.Leu1012=) rs77194332 0.00031
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.1287T>C (p.His429=) rs377469966 0.00024
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.2480-4C>G rs201770901 0.00016
NM_024408.4(NOTCH2):c.3479A>G (p.His1160Arg) rs142876168 0.00015
NM_024408.4(NOTCH2):c.1681+9C>A rs192886452 0.00009
NM_024408.4(NOTCH2):c.1315G>A (p.Ala439Thr) rs199565938 0.00008
NM_024408.4(NOTCH2):c.1443G>A (p.Leu481=) rs587674318 0.00006
NM_024408.4(NOTCH2):c.4312G>A (p.Val1438Ile) rs745861610 0.00006
NM_024408.4(NOTCH2):c.4842A>G (p.Gln1614=) rs36124579 0.00005
NM_024408.4(NOTCH2):c.5480-7C>T rs368724241 0.00005
NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala) rs587778578 0.00005
NM_024408.4(NOTCH2):c.5217T>C (p.Asn1739=) rs768669808 0.00004
NM_024408.4(NOTCH2):c.7263T>A (p.Ser2421=) rs369912969 0.00004
NM_024408.4(NOTCH2):c.6307T>A (p.Ser2103Thr) rs779311707 0.00003
NM_024408.4(NOTCH2):c.1299T>C (p.Cys433=) rs782774086 0.00002
NM_024408.4(NOTCH2):c.137A>G (p.Asn46Ser) rs61788900 0.00002
NM_024408.4(NOTCH2):c.1653G>A (p.Pro551=) rs187731832 0.00002
NM_024408.4(NOTCH2):c.2127C>T (p.Pro709=) rs141051853 0.00002
NM_024408.4(NOTCH2):c.5123C>T (p.Ser1708Phe) rs761415665 0.00002
NM_024408.4(NOTCH2):c.6045T>C (p.Phe2015=) rs766885963 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.3441G>A (p.Glu1147=) rs371875533 0.00001
NM_024408.4(NOTCH2):c.4992G>A (p.Val1664=) rs587748556 0.00001
NM_024408.4(NOTCH2):c.6516C>T (p.Ser2172=) rs587733506 0.00001
NM_024408.4(NOTCH2):c.822T>G (p.Val274=) rs782642000 0.00001
NM_024408.4(NOTCH2):c.1109-13dup rs1651221523
NM_024408.4(NOTCH2):c.1454-6G>T
NM_024408.4(NOTCH2):c.15C>T (p.Arg5=) rs4021006
NM_024408.4(NOTCH2):c.1963A>G (p.Ile655Val) rs1650853647
NM_024408.4(NOTCH2):c.2219+9C>T
NM_024408.4(NOTCH2):c.2366-15dup
NM_024408.4(NOTCH2):c.2475C>T (p.Tyr825=)
NM_024408.4(NOTCH2):c.2752+8T>C rs587621243
NM_024408.4(NOTCH2):c.2796T>G (p.Thr932=)
NM_024408.4(NOTCH2):c.3507T>C (p.Gly1169=)
NM_024408.4(NOTCH2):c.3523-16T>C
NM_024408.4(NOTCH2):c.3893-6del
NM_024408.4(NOTCH2):c.4156G>A (p.Gly1386Arg)
NM_024408.4(NOTCH2):c.4999G>T (p.Val1667Phe) rs17024517
NM_024408.4(NOTCH2):c.5401A>G (p.Arg1801Gly)
NM_024408.4(NOTCH2):c.5480-13dup rs776991920
NM_024408.4(NOTCH2):c.57C>G (p.Cys19Trp) rs11810554
NM_024408.4(NOTCH2):c.6027+10G>T rs774867522
NM_024408.4(NOTCH2):c.6237T>C (p.Ala2079=)
NM_024408.4(NOTCH2):c.875-19del

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