ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease dominant intermediate B; Autosomal dominant centronuclear myopathy; Autosomal dominant Charcot-Marie-Tooth disease type 2M; Fetal akinesia-cerebral and retinal hemorrhage syndrome

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001005361.3(DNM2):c.2356G>T (p.Gly786Cys)	rs1555717200

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