ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
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.3153G>A (p.Thr1051=) rs147272284 0.00055
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.4980C>T (p.Cys1660=) rs202113962 0.00011
NM_004958.4(MTOR):c.3247A>G (p.Met1083Val) rs56164650 0.00009
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.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.6891C>T (p.Asp2297=) rs763361130 0.00004
NM_004958.4(MTOR):c.5505C>T (p.Ala1835=) rs765484322 0.00003
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.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.7301-8C>G rs761587811 0.00001
NM_004958.4(MTOR):c.1668C>G (p.Gly556=)
NM_004958.4(MTOR):c.2142T>G (p.Thr714=)
NM_004958.4(MTOR):c.2658T>C (p.Arg886=)
NM_004958.4(MTOR):c.353A>G (p.Asn118Ser)
NM_004958.4(MTOR):c.4867C>T (p.Leu1623=) rs375937335
NM_004958.4(MTOR):c.5250C>T (p.Cys1750=)
NM_004958.4(MTOR):c.5351G>A (p.Arg1784His)
NM_004958.4(MTOR):c.5451G>T (p.Leu1817=)
NM_004958.4(MTOR):c.6039C>T (p.Ser2013=)
NM_004958.4(MTOR):c.6735A>G (p.Thr2245=) rs1386398922
NM_004958.4(MTOR):c.7275C>A (p.Pro2425=)

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