ClinVar Miner

List of variants in gene MTOR studied for central nervous system malformation

Included ClinVar conditions (173):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 140
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HGVS dbSNP gnomAD frequency
NM_004958.4(MTOR):c.6034-30A>G rs1770344 0.99435
NM_004958.4(MTOR):c.2997C>T (p.Asn999=) rs1064261 0.64761
NM_004958.4(MTOR):c.1437T>C (p.Asp479=) rs1135172 0.60979
NM_004958.4(MTOR):c.4731G>A (p.Ala1577=) rs1057079 0.55171
NM_004958.4(MTOR):c.5553C>T (p.Ser1851=) rs2275527 0.28276
NM_004958.4(MTOR):c.6909G>A (p.Leu2303=) rs11121691 0.27915
NM_004958.4(MTOR):c.2649+9C>T rs144243347 0.00459
NM_004958.4(MTOR):c.6624T>C (p.Leu2208=) rs56051835 0.00258
NM_004958.4(MTOR):c.5653G>A (p.Val1885Ile) rs139043855 0.00041
NM_004958.4(MTOR):c.1145A>G (p.Asn382Ser) rs146393749 0.00039
NM_004958.4(MTOR):c.5501C>T (p.Thr1834Met) rs142403193 0.00036
NM_004958.4(MTOR):c.6440A>C (p.Asn2147Thr) rs767933385 0.00025
NM_004958.4(MTOR):c.3117+34G>A rs545304092 0.00017
NM_004958.4(MTOR):c.2857G>A (p.Val953Met) rs140269225 0.00014
NM_004958.4(MTOR):c.3452A>G (p.Tyr1151Cys) rs151082401 0.00013
NM_004958.4(MTOR):c.3247A>G (p.Met1083Val) rs56164650 0.00009
NM_004958.4(MTOR):c.6810+12G>A rs373052413 0.00006
NM_004958.4(MTOR):c.5506G>A (p.Ala1836Thr) rs180992388 0.00005
NM_004958.4(MTOR):c.743C>T (p.Thr248Ile) rs377679898 0.00005
NM_004958.4(MTOR):c.841-6A>G rs539605016 0.00003
NM_004958.4(MTOR):c.348C>T (p.Pro116=) rs558389352 0.00002
NM_004958.4(MTOR):c.3646A>G (p.Ile1216Val) rs760415071 0.00002
NM_004958.4(MTOR):c.5060A>G (p.His1687Arg) rs376436419 0.00002
NM_004958.4(MTOR):c.5375C>T (p.Ala1792Val) rs868040471 0.00002
NM_004958.4(MTOR):c.5890A>G (p.Ile1964Val) rs759436987 0.00002
NM_004958.4(MTOR):c.706-18C>A rs778886695 0.00002
NM_004958.4(MTOR):c.1081T>A (p.Cys361Ser) rs778914291 0.00001
NM_004958.4(MTOR):c.112G>A (p.Ala38Thr) rs138117203 0.00001
NM_004958.4(MTOR):c.1244A>G (p.Asp415Gly) rs1288219609 0.00001
NM_004958.4(MTOR):c.1509G>C (p.Glu503Asp) rs758232859 0.00001
NM_004958.4(MTOR):c.2045G>A (p.Arg682His) rs778348776 0.00001
NM_004958.4(MTOR):c.2083G>T (p.Ala695Ser) rs1647432818 0.00001
NM_004958.4(MTOR):c.2331+6A>G rs761030701 0.00001
NM_004958.4(MTOR):c.2581T>C (p.Tyr861His) rs1023010218 0.00001
NM_004958.4(MTOR):c.4382T>C (p.Val1461Ala) rs761536364 0.00001
NM_004958.4(MTOR):c.4541G>A (p.Arg1514Gln) rs1403372273 0.00001
NM_004958.4(MTOR):c.4570+5A>G rs370139854 0.00001
NM_004958.4(MTOR):c.4597A>G (p.Thr1533Ala) rs1250124959 0.00001
NM_004958.4(MTOR):c.5431C>T (p.Arg1811Cys) rs1258909652 0.00001
NM_004958.4(MTOR):c.5978A>G (p.Lys1993Arg) rs373390383 0.00001
NM_004958.4(MTOR):c.6169A>G (p.Met2057Val) rs1010993658 0.00001
NM_004958.4(MTOR):c.6752G>A (p.Arg2251Gln) rs1642555959 0.00001
NM_004958.4(MTOR):c.6871G>A (p.Val2291Ile) rs774791298 0.00001
NM_004958.4(MTOR):c.7096A>G (p.Met2366Val) rs1314272593 0.00001
NM_004958.4(MTOR):c.7336_7341del (p.Thr2446_Asp2447del) rs1641966003 0.00001
NM_004958.4(MTOR):c.7447+27C>A rs369718641 0.00001
NM_004958.4(MTOR):c.1052C>T (p.Pro351Leu) rs368675734
NM_004958.4(MTOR):c.1060T>A (p.Ser354Thr) rs2523387808
NM_004958.4(MTOR):c.1078C>T (p.Arg360Trp) rs748256443
NM_004958.4(MTOR):c.1249A>G (p.Met417Val) rs778680709
NM_004958.4(MTOR):c.1256A>G (p.His419Arg) rs2523356225
NM_004958.4(MTOR):c.1438G>T (p.Ala480Ser) rs201601333
NM_004958.4(MTOR):c.1519C>G (p.Pro507Ala) rs2100914816
NM_004958.4(MTOR):c.1559T>C (p.Val520Ala) rs2523333227
NM_004958.4(MTOR):c.1816T>C (p.Cys606Arg) rs2100901805
NM_004958.4(MTOR):c.1951G>C (p.Val651Leu) rs1346689037
NM_004958.4(MTOR):c.2110G>A (p.Val704Met) rs775657387
NM_004958.4(MTOR):c.2149C>T (p.Arg717Ter)
NM_004958.4(MTOR):c.221T>C (p.Leu74Ser) rs2523469392
NM_004958.4(MTOR):c.2295C>A (p.Pro765=) rs2523286401
NM_004958.4(MTOR):c.2579A>T (p.Lys860Met) rs1441440583
NM_004958.4(MTOR):c.257del (p.Gly86fs) rs2100983961
NM_004958.4(MTOR):c.2751_2752del (p.Ser918fs) rs2523257244
NM_004958.4(MTOR):c.2959G>A (p.Val987Met) rs2100855037
NM_004958.4(MTOR):c.3004C>T (p.Arg1002Ter) rs770601118
NM_004958.4(MTOR):c.3074G>C (p.Ser1025Thr) rs2100806593
NM_004958.4(MTOR):c.3109C>G (p.Leu1037Val) rs1646462806
NM_004958.4(MTOR):c.3462G>T (p.Arg1154=) rs17036536
NM_004958.4(MTOR):c.3562-1G>T rs2523092394
NM_004958.4(MTOR):c.3945-26_4016dup rs2522995793
NM_004958.4(MTOR):c.394C>T (p.Arg132Cys) rs747458067
NM_004958.4(MTOR):c.3961G>A (p.Ala1321Thr) rs1316310809
NM_004958.4(MTOR):c.4128T>G (p.Asp1376Glu) rs975577894
NM_004958.4(MTOR):c.422C>T (p.Thr141Ile) rs1266943208
NM_004958.4(MTOR):c.4298T>C (p.Leu1433Ser) rs2100609915
NM_004958.4(MTOR):c.4348T>G (p.Tyr1450Asp)
NM_004958.4(MTOR):c.4360C>T (p.His1454Tyr) rs2100568346
NM_004958.4(MTOR):c.4366T>G (p.Trp1456Gly) rs1085307114
NM_004958.4(MTOR):c.4375G>T (p.Ala1459Ser) rs1644347846
NM_004958.4(MTOR):c.4376C>A (p.Ala1459Asp) rs1644347782
NM_004958.4(MTOR):c.4379T>C (p.Leu1460Pro) rs1057519779
NM_004958.4(MTOR):c.4403A>G (p.Asp1468Gly)
NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg) rs1057519914
NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr) rs786205165
NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe) rs786205165
NM_004958.4(MTOR):c.4468T>C (p.Trp1490Arg) rs2100566800
NM_004958.4(MTOR):c.4555G>A (p.Ala1519Thr) rs1644090362
NM_004958.4(MTOR):c.4606A>G (p.Ile1536Val) rs886041096
NM_004958.4(MTOR):c.4702A>G (p.Arg1568Gly)
NM_004958.4(MTOR):c.4785G>A (p.Met1595Ile) rs869312671
NM_004958.4(MTOR):c.4872G>C (p.Gln1624His)
NM_004958.4(MTOR):c.4883G>A (p.Arg1628His) rs777925640
NM_004958.4(MTOR):c.5005G>T (p.Ala1669Ser) rs2100477650
NM_004958.4(MTOR):c.505-2A>G rs869312706
NM_004958.4(MTOR):c.5062C>T (p.Pro1688Ser) rs2100477232
NM_004958.4(MTOR):c.5113T>G (p.Trp1705Gly) rs2100476791
NM_004958.4(MTOR):c.5171T>G (p.Met1724Arg) rs1005738588
NM_004958.4(MTOR):c.5365-5A>G rs17235626
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) rs863225264
NM_004958.4(MTOR):c.5408A>C (p.His1803Pro)
NM_004958.4(MTOR):c.5432G>T (p.Arg1811Leu) rs751393552
NM_004958.4(MTOR):c.5519C>T (p.Thr1840Ile) rs1643095704
NM_004958.4(MTOR):c.5662T>C (p.Phe1888Leu) rs2100423871
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys) rs869312666
NM_004958.4(MTOR):c.5704G>A (p.Asp1902Asn) rs2100423408
NM_004958.4(MTOR):c.5911G>A (p.Ala1971Thr) rs1057524049
NM_004958.4(MTOR):c.5912C>T (p.Ala1971Val) rs2100414567
NM_004958.4(MTOR):c.5930C>A (p.Thr1977Lys) rs587777893
NM_004958.4(MTOR):c.5930C>G (p.Thr1977Arg) rs587777893
NM_004958.4(MTOR):c.5930C>T (p.Thr1977Ile) rs587777893
NM_004958.4(MTOR):c.5947A>T (p.Thr1983Ser)
NM_004958.4(MTOR):c.5989A>G (p.Asn1997Asp) rs2100413317
NM_004958.4(MTOR):c.6210dup (p.Asn2071Ter) rs2100406692
NM_004958.4(MTOR):c.6227G>A (p.Arg2076Gln) rs2100402606
NM_004958.4(MTOR):c.6455G>A (p.Arg2152His) rs764978010
NM_004958.4(MTOR):c.6457A>G (p.Ile2153Val) rs2100396600
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr) rs587777894
NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe) rs587777894
NM_004958.4(MTOR):c.6674dup (p.Tyr2225Ter) rs1642559236
NM_004958.4(MTOR):c.6962C>G (p.Thr2321Ser) rs1642202172
NM_004958.4(MTOR):c.6981G>A (p.Met2327Ile) rs878855328
NM_004958.4(MTOR):c.6997A>G (p.Ile2333Val)
NM_004958.4(MTOR):c.7105G>C (p.Glu2369Gln) rs2522078580
NM_004958.4(MTOR):c.7154A>G (p.Asn2385Ser) rs754231875
NM_004958.4(MTOR):c.7165G>T (p.Val2389Phe) rs2100317284
NM_004958.4(MTOR):c.7216G>A (p.Val2406Met) rs1557739557
NM_004958.4(MTOR):c.7238G>T (p.Ser2413Ile) rs1553171141
NM_004958.4(MTOR):c.7253T>C (p.Leu2418Pro) rs2100315431
NM_004958.4(MTOR):c.7255G>A (p.Glu2419Lys) rs587777900
NM_004958.4(MTOR):c.7280T>A (p.Leu2427Gln) rs1085307113
NM_004958.4(MTOR):c.7280T>C (p.Leu2427Pro) rs1085307113
NM_004958.4(MTOR):c.7292T>C (p.Leu2431Pro) rs1057524044
NM_004958.4(MTOR):c.729G>T (p.Lys243Asn) rs1650031550
NM_004958.4(MTOR):c.7391G>T (p.Gly2464Val) rs1641758308
NM_004958.4(MTOR):c.7500T>G (p.Ile2500Met) rs1057519915
NM_004958.4(MTOR):c.7529G>T (p.Gly2510Val) rs2100280361
NM_004958.4(MTOR):c.7534G>C (p.Asp2512His) rs2100280291
NM_004958.4(MTOR):c.7535A>G (p.Asp2512Gly)
NM_004958.4(MTOR):c.920G>C (p.Gly307Ala) rs1649073784
NM_004958.4(MTOR):c.997C>T (p.Leu333=) rs1288590431

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