ClinVar Miner

List of variants in gene MME reported as pathogenic for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NC_000003.12:g.155116561T>A rs1057519024
NC_000003.12:g.155116987G>A rs1057519023
NM_000902.4(MME):c.1861T>C (p.Cys621Arg) rs879253752
NM_000902.4(MME):c.655-2A>G rs765591205
NM_000902.4(MME):c.661C>T (p.Gln221Ter) rs879253751

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