ClinVar Miner

List of variants in gene MTOR reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_004958.4(MTOR):c.1348G>A (p.Val450Ile) rs141877007 0.00008
NM_004958.4(MTOR):c.395G>A (p.Arg132His) rs201093943 0.00005
NM_004958.4(MTOR):c.4649T>G (p.Leu1550Arg) rs564439710 0.00003
NM_004958.4(MTOR):c.5591C>T (p.Pro1864Leu) rs750903815 0.00002
NM_004958.4(MTOR):c.2987C>T (p.Thr996Met) rs376436307 0.00001
NM_004958.4(MTOR):c.4254-5C>A rs201737471 0.00001
NM_004958.4(MTOR):c.4540C>T (p.Arg1514Trp) rs1420274633 0.00001
NM_004958.4(MTOR):c.6329G>A (p.Arg2110Gln) rs1182513423 0.00001
NM_004958.4(MTOR):c.6875A>G (p.Asn2292Ser) rs374052581 0.00001
NM_004958.4(MTOR):c.1054G>T (p.Ala352Ser)
NM_004958.4(MTOR):c.1276_1341dup (p.Lys426_Glu447dup) rs1553127831
NM_004958.4(MTOR):c.138C>G (p.His46Gln)
NM_004958.4(MTOR):c.2141C>A (p.Thr714Asn)
NM_004958.4(MTOR):c.2296dup (p.Arg766fs)
NM_004958.4(MTOR):c.2537A>T (p.Gln846Leu)
NM_004958.4(MTOR):c.2611T>A (p.Phe871Ile)
NM_004958.4(MTOR):c.3088T>C (p.Tyr1030His) rs1553121156
NM_004958.4(MTOR):c.3313G>A (p.Ala1105Thr)
NM_004958.4(MTOR):c.3802-5C>T rs2100765525
NM_004958.4(MTOR):c.3849G>T (p.Trp1283Cys) rs1646081483
NM_004958.4(MTOR):c.4150G>A (p.Gly1384Ser)
NM_004958.4(MTOR):c.4193A>G (p.His1398Arg)
NM_004958.4(MTOR):c.433G>A (p.Val145Met) rs1650488352
NM_004958.4(MTOR):c.4381G>C (p.Val1461Leu)
NM_004958.4(MTOR):c.4885A>G (p.Ile1629Val)
NM_004958.4(MTOR):c.5047C>T (p.Arg1683Trp)
NM_004958.4(MTOR):c.5125C>T (p.Arg1709Cys)
NM_004958.4(MTOR):c.5614G>T (p.Asp1872Tyr)
NM_004958.4(MTOR):c.6401G>C (p.Arg2134Pro)
NM_004958.4(MTOR):c.6535G>A (p.Gly2179Arg) rs2100382837
NM_004958.4(MTOR):c.6650G>A (p.Arg2217Gln)
NM_004958.4(MTOR):c.7039G>A (p.Asp2347Asn)
NM_004958.4(MTOR):c.910A>G (p.Met304Val)

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