ClinVar Miner

List of variants studied for TRPV4-related bone disorder by GeneReviews

Included ClinVar conditions (8):

Brachyrachia (short spine dysplasia)
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
Familial digital arthropathy-brachydactyly
Metatropic dysplasia
Parastremmatic dwarfism
Spondyloepimetaphyseal dysplasia, Maroteaux type
Spondylometaphyseal dysplasia, Kozlowski type
TRPV4-related bone disorder

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_021625.5(TRPV4):c.809G>T (p.Gly270Val)	rs387907220
NM_021625.5(TRPV4):c.812G>C (p.Arg271Pro)	rs387907219
NM_021625.5(TRPV4):c.819C>G (p.Phe273Leu)	rs515726170

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