ClinVar Miner

List of variants in gene MTOR reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_004958.4(MTOR):c.510G>C (p.Leu170=) rs12120294 0.00421
NM_004958.4(MTOR):c.6129C>T (p.Asn2043=) rs56096707 0.00384
NM_004958.4(MTOR):c.7455C>T (p.Asp2485=) rs41274506 0.00338
NM_004958.4(MTOR):c.985G>A (p.Ala329Thr) rs35903812 0.00262
NM_004958.4(MTOR):c.6624T>C (p.Leu2208=) rs56051835 0.00258
NM_004958.4(MTOR):c.4416C>T (p.Asp1472=) rs17229193 0.00218
NM_004958.4(MTOR):c.4050C>T (p.Ile1350=) rs56391084 0.00203
NM_004958.4(MTOR):c.423C>T (p.Thr141=) rs137902498 0.00201
NM_004958.4(MTOR):c.1629G>A (p.Leu543=) rs55643406 0.00199
NM_004958.4(MTOR):c.663C>G (p.Thr221=) rs112439072 0.00198
NM_004958.4(MTOR):c.1830C>T (p.Phe610=) rs139687094 0.00140
NM_004958.4(MTOR):c.3630T>C (p.Asp1210=) rs377751542 0.00084
NM_004958.4(MTOR):c.2070G>A (p.Ala690=) rs55752564 0.00077
NM_004958.4(MTOR):c.7158T>C (p.Ala2386=) rs143035002 0.00058
NM_004958.4(MTOR):c.2472C>T (p.Ile824=) rs138875882 0.00056
NM_004958.4(MTOR):c.3153G>A (p.Thr1051=) rs147272284 0.00055
NM_004958.4(MTOR):c.2805G>A (p.Leu935=) rs137863158 0.00049
NM_004958.4(MTOR):c.7367-3T>C rs56412200 0.00048
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.4470-3C>T rs201255391 0.00036
NM_004958.4(MTOR):c.5501C>T (p.Thr1834Met) rs142403193 0.00036
NM_004958.4(MTOR):c.7401C>G (p.Ala2467=) rs151027751 0.00034
NM_004958.4(MTOR):c.4908C>T (p.Ile1636=) rs138256812 0.00032
NM_004958.4(MTOR):c.4884T>G (p.Arg1628=) rs56219693 0.00027
NM_004958.4(MTOR):c.4941T>G (p.His1647Gln) rs144984370 0.00026
NM_004958.4(MTOR):c.5952G>A (p.Thr1984=) rs192740864 0.00025
NM_004958.4(MTOR):c.1821G>A (p.Ala607=) rs55881943 0.00019
NM_004958.4(MTOR):c.1051C>T (p.Pro351Ser) rs147774167 0.00017
NM_004958.4(MTOR):c.3452A>G (p.Tyr1151Cys) rs151082401 0.00013
NM_004958.4(MTOR):c.4980C>T (p.Cys1660=) rs202113962 0.00011
NM_004958.4(MTOR):c.3247A>G (p.Met1083Val) rs56164650 0.00009
NM_004958.4(MTOR):c.1555G>A (p.Ala519Thr) rs201577876 0.00008
NM_004958.4(MTOR):c.1653C>G (p.Pro551=) rs372084884 0.00008
NM_004958.4(MTOR):c.5494G>A (p.Ala1832Thr) rs369088781 0.00007
NM_004958.4(MTOR):c.5197G>A (p.Ala1733Thr) rs201557303 0.00006
NM_004958.4(MTOR):c.5589G>A (p.Ser1863=) rs377406262 0.00006
NM_004958.4(MTOR):c.889G>A (p.Asp297Asn) rs141936187 0.00006
NM_004958.4(MTOR):c.3429G>A (p.Thr1143=) rs144663877 0.00005
NM_004958.4(MTOR):c.395G>A (p.Arg132His) rs201093943 0.00005
NM_004958.4(MTOR):c.2208+6C>T rs375405319 0.00004
NM_004958.4(MTOR):c.5238C>T (p.Leu1746=) rs145082947 0.00004
NM_004958.4(MTOR):c.6321G>A (p.Val2107=) rs777896603 0.00004
NM_004958.4(MTOR):c.6675C>T (p.Tyr2225=) rs185523638 0.00004
NM_004958.4(MTOR):c.6891C>T (p.Asp2297=) rs763361130 0.00004
NM_004958.4(MTOR):c.5505C>T (p.Ala1835=) rs765484322 0.00003
NM_004958.4(MTOR):c.1577G>A (p.Arg526His) rs1363405074 0.00002
NM_004958.4(MTOR):c.5133C>T (p.Ile1711=) rs769706061 0.00002
NM_004958.4(MTOR):c.5319G>T (p.Leu1773=) rs1259886298 0.00002
NM_004958.4(MTOR):c.7496A>G (p.Gln2499Arg) rs143119651 0.00002
NM_004958.4(MTOR):c.1851G>A (p.Glu617=) rs1272825701 0.00001
NM_004958.4(MTOR):c.1882C>T (p.Arg628Cys) rs751242124 0.00001
NM_004958.4(MTOR):c.3405G>A (p.Ala1135=) rs750981339 0.00001
NM_004958.4(MTOR):c.3649G>C (p.Val1217Leu) rs1315147069 0.00001
NM_004958.4(MTOR):c.3834T>C (p.Asp1278=) rs372297307 0.00001
NM_004958.4(MTOR):c.3855A>G (p.Arg1285=) rs759585316 0.00001
NM_004958.4(MTOR):c.3894C>G (p.Pro1298=) rs368485954 0.00001
NM_004958.4(MTOR):c.5048G>A (p.Arg1683Gln) rs746116382 0.00001
NM_004958.4(MTOR):c.6130G>A (p.Val2044Met) rs868627779 0.00001
NM_004958.4(MTOR):c.6329G>A (p.Arg2110Gln) rs1182513423 0.00001
NM_004958.4(MTOR):c.6810+3A>G rs764947666 0.00001
NM_004958.4(MTOR):c.6875A>G (p.Asn2292Ser) rs374052581 0.00001
NM_004958.4(MTOR):c.7301-8C>G rs761587811 0.00001
NM_004958.4(MTOR):c.1019A>G (p.Gln340Arg) rs1649062802
NM_004958.4(MTOR):c.1133T>C (p.Leu378Pro)
NM_004958.4(MTOR):c.1500dup (p.Ile501fs)
NM_004958.4(MTOR):c.1502T>C (p.Ile501Thr)
NM_004958.4(MTOR):c.1542C>T (p.Ser514=)
NM_004958.4(MTOR):c.1570C>G (p.Leu524Val) rs2100910398
NM_004958.4(MTOR):c.1572G>A (p.Leu524=)
NM_004958.4(MTOR):c.1668C>G (p.Gly556=)
NM_004958.4(MTOR):c.16C>T (p.Pro6Ser)
NM_004958.4(MTOR):c.1892C>T (p.Thr631Ile)
NM_004958.4(MTOR):c.2142T>G (p.Thr714=)
NM_004958.4(MTOR):c.2272G>C (p.Gly758Arg) rs1484674652
NM_004958.4(MTOR):c.2314A>G (p.Met772Val) rs1377200831
NM_004958.4(MTOR):c.2331+4A>C
NM_004958.4(MTOR):c.2332G>A (p.Ala778Thr) rs2100878601
NM_004958.4(MTOR):c.2658T>C (p.Arg886=)
NM_004958.4(MTOR):c.2970G>T (p.Leu990=) rs773965631
NM_004958.4(MTOR):c.2988G>C (p.Thr996=) rs200775211
NM_004958.4(MTOR):c.3238C>T (p.Arg1080Cys)
NM_004958.4(MTOR):c.3404C>T (p.Ala1135Val)
NM_004958.4(MTOR):c.353A>G (p.Asn118Ser)
NM_004958.4(MTOR):c.3671A>G (p.Asp1224Gly)
NM_004958.4(MTOR):c.3901C>T (p.Arg1301Cys) rs1646080085
NM_004958.4(MTOR):c.4770G>A (p.Met1590Ile) rs1386078325
NM_004958.4(MTOR):c.4867C>T (p.Leu1623=) rs375937335
NM_004958.4(MTOR):c.5011A>G (p.Lys1671Glu)
NM_004958.4(MTOR):c.5033dup (p.Val1679fs)
NM_004958.4(MTOR):c.5047C>T (p.Arg1683Trp)
NM_004958.4(MTOR):c.5072C>G (p.Thr1691Arg) rs764574187
NM_004958.4(MTOR):c.50G>A (p.Ser17Asn) rs200587372
NM_004958.4(MTOR):c.5250C>T (p.Cys1750=)
NM_004958.4(MTOR):c.5351G>A (p.Arg1784His)
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) rs863225264
NM_004958.4(MTOR):c.5451G>T (p.Leu1817=)
NM_004958.4(MTOR):c.5490_5501del (p.1830_1833TAAT[1]) rs571156267
NM_004958.4(MTOR):c.5526C>A (p.Ala1842=)
NM_004958.4(MTOR):c.5533_5544del (p.Glu1845_Asn1848del) rs2100430684
NM_004958.4(MTOR):c.5660G>T (p.Gly1887Val) rs1643024516
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys) rs869312666
NM_004958.4(MTOR):c.6039C>T (p.Ser2013=)
NM_004958.4(MTOR):c.6455G>T (p.Arg2152Leu) rs764978010
NM_004958.4(MTOR):c.6735A>G (p.Thr2245=) rs1386398922
NM_004958.4(MTOR):c.7260C>G (p.Ala2420=) rs2100315285
NM_004958.4(MTOR):c.7275C>A (p.Pro2425=)
NM_004958.4(MTOR):c.7406A>G (p.Lys2469Arg) rs1641757253

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