ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 2A1 by Neuberg Centre For Genomic Medicine, NCGM

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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001365951.3(KIF1B):c.2830G>A (p.Gly944Ser)	rs755314640	0.00001
NM_001365951.3(KIF1B):c.3892A>G (p.Ile1298Val)	rs529804940

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