ClinVar Miner

List of variants in gene MTOR reported as likely pathogenic for CEBALID syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004958.4(MTOR):c.4356A>T (p.Lys1452Asn) rs1644348291
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.6050T>C (p.Ile2017Thr) rs1642915400
NM_004958.4(MTOR):c.7238G>T (p.Ser2413Ile) rs1553171141

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