ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2A1 by GenomeConnect, ClinGen

Included ClinVar conditions (5):

Charcot-Marie-Tooth disease type 2A1
Charcot-Marie-Tooth disease type 2A1; Neuroblastoma, susceptibility to, 1
Charcot-Marie-Tooth disease type 2A1; Neuroblastoma; Pheochromocytoma
Charcot-Marie-Tooth disease type 2A1; Pheochromocytoma; Neuroblastoma, susceptibility to, 1
Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease type 2A1; Charcot-Marie-Tooth disease, type 2A; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_014874.4(MFN2):c.1292C>T (p.Ser431Leu)	rs764374251	0.00001

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