ClinVar Miner

List of variants studied for Neuronopathy, distal hereditary motor, autosomal dominant 8; Scapuloperoneal spinal muscular atrophy; Charcot-Marie-Tooth disease axonal type 2C

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_021625.5(TRPV4):c.1063C>T (p.Arg355Cys) rs143604694 0.00004
NM_021625.5(TRPV4):c.1825_1891+5del
NM_021625.5(TRPV4):c.2012T>C (p.Leu671Pro) rs2548718084

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