ClinVar Miner

List of variants in gene MTOR reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_004958.4(MTOR):c.3481C>G (p.Arg1161Gly) rs202197441 0.00003
NM_004958.4(MTOR):c.4612C>T (p.Arg1538Trp) rs202187935 0.00003
NM_004958.4(MTOR):c.2056C>T (p.His686Tyr) rs199502742 0.00002
NM_004958.4(MTOR):c.6008A>G (p.Asn2003Ser) rs1046384472 0.00002
NM_004958.4(MTOR):c.1012T>C (p.Ser338Pro) rs761594312 0.00001
NM_004958.4(MTOR):c.1372A>G (p.Ile458Val) rs754601974 0.00001
NM_004958.4(MTOR):c.13G>A (p.Gly5Arg) rs774041749 0.00001
NM_004958.4(MTOR):c.1883G>A (p.Arg628His) rs146049556 0.00001
NM_004958.4(MTOR):c.2581T>C (p.Tyr861His) rs1023010218 0.00001
NM_004958.4(MTOR):c.2980A>T (p.Met994Leu) rs1316776406 0.00001
NM_004958.4(MTOR):c.3005G>A (p.Arg1002Gln) rs1397910040 0.00001
NM_004958.4(MTOR):c.3269G>C (p.Arg1090Pro) rs573466361 0.00001
NM_004958.4(MTOR):c.3461G>A (p.Arg1154Gln) rs768076455 0.00001
NM_004958.4(MTOR):c.3482G>A (p.Arg1161Gln) rs777609766 0.00001
NM_004958.4(MTOR):c.3712A>T (p.Arg1238Trp) rs1289893491 0.00001
NM_004958.4(MTOR):c.4291G>A (p.Gly1431Arg) rs1644683232 0.00001
NM_004958.4(MTOR):c.5576G>A (p.Ser1859Asn) rs1462490050 0.00001
NM_004958.4(MTOR):c.6107G>A (p.Arg2036His) rs1642913016 0.00001
NM_004958.4(MTOR):c.1036G>A (p.Gly346Arg) rs1649059913
NM_004958.4(MTOR):c.1047del (p.Ser350fs)
NM_004958.4(MTOR):c.1078C>T (p.Arg360Trp) rs748256443
NM_004958.4(MTOR):c.1147A>G (p.Ser383Gly) rs1649034149
NM_004958.4(MTOR):c.1151A>G (p.Lys384Arg) rs1553128720
NM_004958.4(MTOR):c.1321dup (p.Ser441fs) rs2523355614
NM_004958.4(MTOR):c.1373T>G (p.Ile458Ser) rs1648316310
NM_004958.4(MTOR):c.1412+5G>A rs2100921727
NM_004958.4(MTOR):c.1429C>G (p.Gln477Glu) rs1648048259
NM_004958.4(MTOR):c.1455C>G (p.Cys485Trp)
NM_004958.4(MTOR):c.1468G>C (p.Ala490Pro)
NM_004958.4(MTOR):c.1483C>T (p.Pro495Ser)
NM_004958.4(MTOR):c.1528G>A (p.Ala510Thr) rs2100914750
NM_004958.4(MTOR):c.157C>T (p.Arg53Ter) rs754392569
NM_004958.4(MTOR):c.158G>A (p.Arg53Gln) rs1650804526
NM_004958.4(MTOR):c.1713_1715del (p.Thr572del) rs1228888866
NM_004958.4(MTOR):c.1717del (p.Leu573fs)
NM_004958.4(MTOR):c.1735G>A (p.Val579Met) rs1260620990
NM_004958.4(MTOR):c.1759C>T (p.Arg587Ter) rs750031278
NM_004958.4(MTOR):c.1801C>T (p.Gln601Ter) rs2100901882
NM_004958.4(MTOR):c.2005C>T (p.Pro669Ser)
NM_004958.4(MTOR):c.2050del (p.Asp684fs)
NM_004958.4(MTOR):c.2101A>G (p.Asn701Asp) rs2523311546
NM_004958.4(MTOR):c.212T>G (p.Ile71Ser)
NM_004958.4(MTOR):c.2297G>C (p.Arg766Pro) rs1647117277
NM_004958.4(MTOR):c.229A>G (p.Ser77Gly) rs2100984049
NM_004958.4(MTOR):c.2331+1G>A rs2100881327
NM_004958.4(MTOR):c.2447G>C (p.Trp816Ser)
NM_004958.4(MTOR):c.2459T>G (p.Leu820Arg)
NM_004958.4(MTOR):c.2468T>C (p.Ile823Thr) rs2100873480
NM_004958.4(MTOR):c.2498T>C (p.Leu833Ser) rs2523271687
NM_004958.4(MTOR):c.2558A>G (p.Tyr853Cys) rs2523262449
NM_004958.4(MTOR):c.2641C>T (p.Arg881Cys) rs2100867880
NM_004958.4(MTOR):c.2664A>T (p.Leu888Phe) rs2523257971
NM_004958.4(MTOR):c.2665G>C (p.Gly889Arg)
NM_004958.4(MTOR):c.2677G>A (p.Ala893Thr) rs2100866284
NM_004958.4(MTOR):c.2717T>C (p.Ile906Thr) rs1553124411
NM_004958.4(MTOR):c.2759C>T (p.Ser920Phe)
NM_004958.4(MTOR):c.2782_2788delinsATT (p.Asp928fs)
NM_004958.4(MTOR):c.2845G>T (p.Ala949Ser)
NM_004958.4(MTOR):c.2885A>G (p.Gln962Arg) rs879255386
NM_004958.4(MTOR):c.289G>A (p.Glu97Lys) rs1650502695
NM_004958.4(MTOR):c.289G>T (p.Glu97Ter) rs1650502695
NM_004958.4(MTOR):c.2911G>C (p.Val971Leu) rs2100855513
NM_004958.4(MTOR):c.2930dup (p.Ile978fs)
NM_004958.4(MTOR):c.3025C>T (p.Arg1009Trp) rs758634485
NM_004958.4(MTOR):c.311T>C (p.Ile104Thr) rs2100978799
NM_004958.4(MTOR):c.3227C>T (p.Pro1076Leu) rs1474831560
NM_004958.4(MTOR):c.3269G>A (p.Arg1090His) rs573466361
NM_004958.4(MTOR):c.3282del (p.Lys1095fs) rs1646370834
NM_004958.4(MTOR):c.3286-2del
NM_004958.4(MTOR):c.3289C>G (p.Leu1097Val)
NM_004958.4(MTOR):c.3300C>A (p.Ile1100=) rs2523113773
NM_004958.4(MTOR):c.3303G>T (p.Gln1101His)
NM_004958.4(MTOR):c.3404C>G (p.Ala1135Gly) rs1646342863
NM_004958.4(MTOR):c.3466_3467del (p.Ile1156fs)
NM_004958.4(MTOR):c.3487C>G (p.Leu1163Val) rs1646340525
NM_004958.4(MTOR):c.3512C>T (p.Ser1171Phe) rs1646339995
NM_004958.4(MTOR):c.3520A>T (p.Met1174Leu) rs2100792881
NM_004958.4(MTOR):c.3578C>T (p.Pro1193Leu) rs2523092247
NM_004958.4(MTOR):c.3607C>G (p.Arg1203Gly) rs756418718
NM_004958.4(MTOR):c.3623G>T (p.Arg1208Leu) rs1481407496
NM_004958.4(MTOR):c.3634C>T (p.Leu1212Phe) rs1646287719
NM_004958.4(MTOR):c.3653A>G (p.Lys1218Arg) rs2100786964
NM_004958.4(MTOR):c.3764T>G (p.Met1255Arg)
NM_004958.4(MTOR):c.3787A>G (p.Ile1263Val)
NM_004958.4(MTOR):c.3791A>T (p.Asn1264Ile)
NM_004958.4(MTOR):c.3840G>C (p.Trp1280Cys)
NM_004958.4(MTOR):c.3973T>C (p.Cys1325Arg) rs2100747088
NM_004958.4(MTOR):c.3983A>C (p.Glu1328Ala)
NM_004958.4(MTOR):c.4013T>G (p.Ile1338Ser) rs2100746677
NM_004958.4(MTOR):c.401C>T (p.Ala134Val) rs2100978459
NM_004958.4(MTOR):c.4107+1G>A rs2100745610
NM_004958.4(MTOR):c.4289C>T (p.Ala1430Val)
NM_004958.4(MTOR):c.4291G>C (p.Gly1431Arg)
NM_004958.4(MTOR):c.4358T>C (p.Leu1453Pro) rs1553179349
NM_004958.4(MTOR):c.4360C>T (p.His1454Tyr) rs2100568346
NM_004958.4(MTOR):c.4402G>T (p.Asp1468Tyr)
NM_004958.4(MTOR):c.4414del (p.Asp1472fs) rs2100567609
NM_004958.4(MTOR):c.4415A>G (p.Asp1472Gly) rs779868861
NM_004958.4(MTOR):c.4424A>T (p.Glu1475Val)
NM_004958.4(MTOR):c.4451T>C (p.Leu1484Pro) rs2100567042
NM_004958.4(MTOR):c.455C>T (p.Ala152Val) rs2100978214
NM_004958.4(MTOR):c.4628G>A (p.Gly1543Glu) rs2100519683
NM_004958.4(MTOR):c.4762G>A (p.Gly1588Arg)
NM_004958.4(MTOR):c.476A>G (p.Asp159Gly) rs2100978140
NM_004958.4(MTOR):c.4879C>T (p.Gln1627Ter) rs2100479402
NM_004958.4(MTOR):c.4991G>T (p.Gly1664Val) rs2100478749
NM_004958.4(MTOR):c.505-2A>G rs869312706
NM_004958.4(MTOR):c.5110A>C (p.Met1704Leu)
NM_004958.4(MTOR):c.5110_5111del (p.Met1704fs)
NM_004958.4(MTOR):c.518G>A (p.Arg173His)
NM_004958.4(MTOR):c.5221C>A (p.Gln1741Lys)
NM_004958.4(MTOR):c.5246+5G>C rs2100451611
NM_004958.4(MTOR):c.5258A>T (p.Lys1753Ile) rs2522368790
NM_004958.4(MTOR):c.5353A>G (p.Ser1785Gly) rs2522367259
NM_004958.4(MTOR):c.5380G>A (p.Ala1794Thr) rs2100433281
NM_004958.4(MTOR):c.5432G>A (p.Arg1811His) rs751393552
NM_004958.4(MTOR):c.544TTC[2] (p.Phe184del)
NM_004958.4(MTOR):c.5485_5505dup (p.Thr1829_Ala1835dup) rs1643098054
NM_004958.4(MTOR):c.5497A>G (p.Thr1833Ala) rs1643099543
NM_004958.4(MTOR):c.5499_5510del (p.1830TAAT[1]) rs1220605886
NM_004958.4(MTOR):c.5502_5519dup (p.Ala1835_Thr1840dup) rs770515802
NM_004958.4(MTOR):c.5537G>A (p.Gly1846Asp) rs2100430794
NM_004958.4(MTOR):c.5614-4A>C rs2100424585
NM_004958.4(MTOR):c.5650G>A (p.Ala1884Thr) rs1643025235
NM_004958.4(MTOR):c.5693A>G (p.Asn1898Ser) rs1164349904
NM_004958.4(MTOR):c.5723C>T (p.Thr1908Ile) rs2100419408
NM_004958.4(MTOR):c.5849G>T (p.Arg1950Ile) rs1052713389
NM_004958.4(MTOR):c.5993T>C (p.Met1998Thr) rs2100413241
NM_004958.4(MTOR):c.6017_6025del (p.Val2006_Gln2008del)
NM_004958.4(MTOR):c.605A>G (p.Lys202Arg) rs2100975122
NM_004958.4(MTOR):c.6075_6086del (p.Met2026_Glu2029del) rs2100408736
NM_004958.4(MTOR):c.6083A>G (p.His2028Arg)
NM_004958.4(MTOR):c.6205T>C (p.Ser2069Pro) rs2100406780
NM_004958.4(MTOR):c.6249G>C (p.Glu2083Asp)
NM_004958.4(MTOR):c.6277A>G (p.Asn2093Asp) rs2100401958
NM_004958.4(MTOR):c.6285_6289dup (p.Leu2097fs) rs2522272070
NM_004958.4(MTOR):c.6325del (p.Arg2109fs) rs2100401305
NM_004958.4(MTOR):c.634G>A (p.Ala212Thr) rs2100974917
NM_004958.4(MTOR):c.6359C>G (p.Ser2120Cys)
NM_004958.4(MTOR):c.6508C>T (p.Arg2170Trp) rs780210598
NM_004958.4(MTOR):c.6561A>G (p.Lys2187=)
NM_004958.4(MTOR):c.6601_6622del (p.Leu2201fs)
NM_004958.4(MTOR):c.6769A>G (p.Lys2257Glu) rs2522186936
NM_004958.4(MTOR):c.6811-1G>A rs2522176004
NM_004958.4(MTOR):c.6843_6844delinsTT (p.Met2281_Gln2282delinsIleTer) rs2100356990
NM_004958.4(MTOR):c.6860T>C (p.Phe2287Ser)
NM_004958.4(MTOR):c.6908T>C (p.Leu2303Pro) rs2100356600
NM_004958.4(MTOR):c.6910T>C (p.Trp2304Arg)
NM_004958.4(MTOR):c.696G>C (p.Gln232His)
NM_004958.4(MTOR):c.699G>A (p.Trp233Ter) rs1306389306
NM_004958.4(MTOR):c.7006C>G (p.Leu2336Val)
NM_004958.4(MTOR):c.7017-1G>A
NM_004958.4(MTOR):c.7089+2T>C
NM_004958.4(MTOR):c.7102C>T (p.Arg2368Ter)
NM_004958.4(MTOR):c.7159A>G (p.Met2387Val) rs2100320592
NM_004958.4(MTOR):c.719A>G (p.Glu240Gly)
NM_004958.4(MTOR):c.7204A>G (p.Thr2402Ala) rs2100316484
NM_004958.4(MTOR):c.7229A>C (p.His2410Pro)
NM_004958.4(MTOR):c.7246del (p.Ala2416fs) rs2522065899
NM_004958.4(MTOR):c.7295T>C (p.Met2432Thr)
NM_004958.4(MTOR):c.7316A>G (p.Asn2439Ser) rs1641967823
NM_004958.4(MTOR):c.7514G>A (p.Arg2505Gln) rs1057519777
NM_004958.4(MTOR):c.7534G>C (p.Asp2512His) rs2100280291
NM_004958.4(MTOR):c.7619A>T (p.Gln2540Leu)
NM_004958.4(MTOR):c.7628T>C (p.Ile2543Thr) rs2100279708
NM_004958.4(MTOR):c.784C>A (p.His262Asn)
NM_004958.4(MTOR):c.808G>A (p.Glu270Lys)
NM_004958.4(MTOR):c.817C>T (p.Arg273Ter) rs2100966495
NM_004958.4(MTOR):c.83G>A (p.Gly28Asp) rs1650814881
NM_004958.4(MTOR):c.910A>T (p.Met304Leu)
NM_004958.4(MTOR):c.95G>A (p.Arg32Gln) rs2100986298

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