ClinVar Miner

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

Included ClinVar conditions (164):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 123
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004958.4(MTOR):c.6034-30A>G rs1770344 0.99413
NM_004958.4(MTOR):c.2997C>T (p.Asn999=) rs1064261 0.63488
NM_004958.4(MTOR):c.1437T>C (p.Asp479=) rs1135172 0.59749
NM_004958.4(MTOR):c.4731G>A (p.Ala1577=) rs1057079 0.55171
NM_004958.4(MTOR):c.5553C>T (p.Ser1851=) rs2275527 0.29172
NM_004958.4(MTOR):c.6909G>A (p.Leu2303=) rs11121691 0.28827
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.2857G>A (p.Val953Met) rs140269225 0.00014
NM_004958.4(MTOR):c.3452A>G (p.Tyr1151Cys) rs151082401 0.00013
NM_004958.4(MTOR):c.706-18C>A rs778886695 0.00010
NM_004958.4(MTOR):c.6810+12G>A rs373052413 0.00006
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.1509G>C (p.Glu503Asp) rs758232859 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.5890A>G (p.Ile1964Val) rs759436987 0.00002
NM_004958.4(MTOR):c.5978A>G (p.Lys1993Arg) rs373390383 0.00002
NM_004958.4(MTOR):c.6871G>A (p.Val2291Ile) rs774791298 0.00002
NM_004958.4(MTOR):c.1081T>A (p.Cys361Ser) rs778914291 0.00001
NM_004958.4(MTOR):c.1244A>G (p.Asp415Gly) rs1288219609 0.00001
NM_004958.4(MTOR):c.2045G>A (p.Arg682His) rs778348776 0.00001
NM_004958.4(MTOR):c.2581T>C (p.Tyr861His) rs1023010218 0.00001
NM_004958.4(MTOR):c.3117+34G>A rs545304092 0.00001
NM_004958.4(MTOR):c.4382T>C (p.Val1461Ala) rs761536364 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.6169A>G (p.Met2057Val) rs1010993658 0.00001
NM_004958.4(MTOR):c.6752G>A (p.Arg2251Gln) rs1642555959 0.00001
NM_004958.4(MTOR):c.7447+27C>A rs369718641 0.00001
NM_004958.4(MTOR):c.1060T>A (p.Ser354Thr)
NM_004958.4(MTOR):c.1078C>T (p.Arg360Trp)
NM_004958.4(MTOR):c.112G>A (p.Ala38Thr) rs138117203
NM_004958.4(MTOR):c.1249A>G (p.Met417Val) rs778680709
NM_004958.4(MTOR):c.1256A>G (p.His419Arg)
NM_004958.4(MTOR):c.1438G>T (p.Ala480Ser) rs201601333
NM_004958.4(MTOR):c.1519C>G (p.Pro507Ala)
NM_004958.4(MTOR):c.1559T>C (p.Val520Ala)
NM_004958.4(MTOR):c.1816T>C (p.Cys606Arg) rs2100901805
NM_004958.4(MTOR):c.1951G>C (p.Val651Leu)
NM_004958.4(MTOR):c.2083G>T (p.Ala695Ser)
NM_004958.4(MTOR):c.2110G>A (p.Val704Met)
NM_004958.4(MTOR):c.221T>C (p.Leu74Ser)
NM_004958.4(MTOR):c.2295C>A (p.Pro765=)
NM_004958.4(MTOR):c.2331+6A>G rs761030701
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)
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)
NM_004958.4(MTOR):c.3109C>G (p.Leu1037Val) rs1646462806
NM_004958.4(MTOR):c.3462G>T (p.Arg1154=)
NM_004958.4(MTOR):c.348C>T (p.Pro116=) rs558389352
NM_004958.4(MTOR):c.3945-26_4016dup
NM_004958.4(MTOR):c.394C>T (p.Arg132Cys) rs747458067
NM_004958.4(MTOR):c.3961G>A (p.Ala1321Thr)
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.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)
NM_004958.4(MTOR):c.4379T>C (p.Leu1460Pro) rs1057519779
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.4541G>A (p.Arg1514Gln)
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.4785G>A (p.Met1595Ile) rs869312671
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)
NM_004958.4(MTOR):c.5171T>G (p.Met1724Arg) rs1005738588
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) rs863225264
NM_004958.4(MTOR):c.5432G>T (p.Arg1811Leu) rs751393552
NM_004958.4(MTOR):c.5506G>A (p.Ala1836Thr) rs180992388
NM_004958.4(MTOR):c.5519C>T (p.Thr1840Ile)
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys) rs869312666
NM_004958.4(MTOR):c.5704G>A (p.Asp1902Asn)
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.5989A>G (p.Asn1997Asp)
NM_004958.4(MTOR):c.6210dup (p.Asn2071Ter) rs2100406692
NM_004958.4(MTOR):c.6227G>A (p.Arg2076Gln) rs2100402606
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.7096A>G (p.Met2366Val)
NM_004958.4(MTOR):c.7105G>C (p.Glu2369Gln)
NM_004958.4(MTOR):c.7154A>G (p.Asn2385Ser)
NM_004958.4(MTOR):c.7165G>T (p.Val2389Phe)
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)
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)
NM_004958.4(MTOR):c.7336_7341del (p.Thr2446_Asp2447del) rs1641966003
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)
NM_004958.4(MTOR):c.920G>C (p.Gly307Ala) rs1649073784
NM_004958.4(MTOR):c.997C>T (p.Leu333=) rs1288590431

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.