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

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_005340.7(HINT1):c.334C>A (p.His112Asn)	rs373849532	0.00002
NM_005340.7(HINT1):c.112T>C (p.Cys38Arg)	rs762701283	0.00001
NM_005340.7(HINT1):c.188T>A (p.Ile63Asn)	rs1048322333	0.00001
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	rs2479570025
NM_005340.7(HINT1):c.112-2A>G
NM_005340.7(HINT1):c.278G>T (p.Gly93Val)	rs397514493
NM_005340.7(HINT1):c.289G>A (p.Val97Met)	rs1554088064

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