ClinVar Miner

List of variants in gene MIR4497, TRPV4 studied for neuronopathy, distal hereditary motor, autosomal dominant 8

Included ClinVar conditions (5):

Brachyrachia (short spine dysplasia); Familial digital arthropathy-brachydactyly; Metatropic dysplasia; Parastremmatic dwarfism; Spondylometaphyseal dysplasia, Kozlowski type; Spondyloepimetaphyseal dysplasia, Maroteaux type; Neuronopathy, distal hereditary motor, autosomal dominant 8; Scapuloperoneal spinal muscular atrophy; Sodium serum level quantitative trait locus 1; Charcot-Marie-Tooth disease axonal type 2C; Avascular necrosis of femoral head, primary, 2
Neuronopathy, distal hereditary motor, autosomal dominant 8
Neuronopathy, distal hereditary motor, autosomal dominant 8; Charcot-Marie-Tooth disease axonal type 2C
Neuronopathy, distal hereditary motor, autosomal dominant 8; Scapuloperoneal spinal muscular atrophy; Charcot-Marie-Tooth disease axonal type 2C
Neuronopathy, distal hereditary motor, autosomal dominant 8; Scapuloperoneal spinal muscular atrophy; Charcot-Marie-Tooth disease axonal type 2C; TRPV4-related bone disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NC_000012.12:g.109833413C>T	rs56079803	0.02373
NM_021625.5(TRPV4):c.-59C>T	rs1299040866	0.00001
NM_021625.5(TRPV4):c.-74G>A	rs886048942	0.00001
NM_021625.4(TRPV4):c.-92G>T	rs906360195

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