ClinVar Miner

List of variants in gene HINT1 studied for Charcot-Marie-Tooth disease

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Total variants: 4
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HGVS dbSNP
NM_005340.7(HINT1):c.182C>T (p.Ser61Phe)
NM_005340.7(HINT1):c.316C>T (p.Gln106Ter)
NM_005340.7(HINT1):c.341A>G (p.His114Arg)
NM_005340.7(HINT1):c.368G>A (p.Trp123Ter)

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