ClinVar Miner

List of variants in gene MTOR reported by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_004958.4(MTOR):c.4356A>T (p.Lys1452Asn) rs1644348291
NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr) rs786205165
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.5395G>A (p.Glu1799Lys) rs863225264
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys) rs869312666
NM_004958.4(MTOR):c.5930C>T (p.Thr1977Ile) rs587777893
NM_004958.4(MTOR):c.6050T>C (p.Ile2017Thr) rs1642915400
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.7280T>C (p.Leu2427Pro) rs1085307113
NM_004958.4(MTOR):c.7501A>T (p.Ile2501Phe) rs968817513

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