ClinVar Miner

List of variants in gene combination AIFM1, RAB33A reported as pathogenic for Charcot-Marie-Tooth disease

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_004208.4(AIFM1):c.1478A>T (p.Glu493Val) rs281864468

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