ClinVar Miner

List of variants in gene MTOR reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_004958.4(MTOR):c.2581T>C (p.Tyr861His) rs1023010218 0.00001
NM_004958.4(MTOR):c.1078C>T (p.Arg360Trp)
NM_004958.4(MTOR):c.1816T>C (p.Cys606Arg) rs2100901805
NM_004958.4(MTOR):c.3945-26_4016dup
NM_004958.4(MTOR):c.4298T>C (p.Leu1433Ser) rs2100609915
NM_004958.4(MTOR):c.4356A>T (p.Lys1452Asn) rs1644348291
NM_004958.4(MTOR):c.4379T>C (p.Leu1460Pro) rs1057519779
NM_004958.4(MTOR):c.4444C>T (p.Arg1482Cys) rs1031980569
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.4449C>G (p.Cys1483Trp) rs1057519913
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.4556C>T (p.Ala1519Val) rs1644090272
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.5660G>T (p.Gly1887Val) rs1643024516
NM_004958.4(MTOR):c.5662T>C (p.Phe1888Leu)
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys) rs869312666
NM_004958.4(MTOR):c.5664C>A (p.Phe1888Leu)
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.6040G>A (p.Glu2014Lys) rs1057519780
NM_004958.4(MTOR):c.6050T>C (p.Ile2017Thr) rs1642915400
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.6625C>G (p.Leu2209Val) rs774204282
NM_004958.4(MTOR):c.6643T>A (p.Ser2215Thr) rs1057519917
NM_004958.4(MTOR):c.6643T>C (p.Ser2215Pro) rs1057519917
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.6667C>A (p.Gln2223Lys) rs1057519778
NM_004958.4(MTOR):c.7076G>A (p.Gly2359Glu) rs2100323377
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.7255G>A (p.Glu2419Lys) rs587777900
NM_004958.4(MTOR):c.7292T>C (p.Leu2431Pro) rs1057524044
NM_004958.4(MTOR):c.7498A>T (p.Ile2500Phe) rs1057519916
NM_004958.4(MTOR):c.7500T>G (p.Ile2500Met) rs1057519915
NM_004958.4(MTOR):c.7514G>C (p.Arg2505Pro) rs1057519777
NM_004958.4(MTOR):c.7529G>T (p.Gly2510Val) rs2100280361

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