ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive axonal neuropathy with neuromyotonia by Neuromuscular Group, Huashan Hospital, Fudan University

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005340.7(HINT1):c.112T>C (p.Cys38Arg)	rs762701283	0.00001
NM_005340.7(HINT1):c.289G>A (p.Val97Met)	rs1554088064

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