ClinVar Miner

List of variants reported as not provided for neuropathy, hereditary sensory, type 2C by GenomeConnect, ClinGen

Included ClinVar conditions (4):

Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory and autonomic, type 2A; Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C

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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: 2

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HGVS	dbSNP	gnomAD frequency
NM_001244008.2(KIF1A):c.1856C>T (p.Ala619Val)	rs765812659	0.00012
NM_001244008.2(KIF1A):c.3816+3G>A	rs2047809605

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