ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease type 2A1

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

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001365951.3(KIF1B):c.4753-20C>A	rs192598799	0.00436
NM_001365951.3(KIF1B):c.5097-9C>T	rs376873833	0.00108
NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg)	rs373698346	0.00009

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