ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive axonal neuropathy with neuromyotonia by Invitae

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005340.7(HINT1):c.284G>A (p.Arg95Gln)	rs373197800	0.00001
NM_005340.7(HINT1):c.111+2del	rs2149654857
NM_005340.7(HINT1):c.112-1del

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