ClinVar Miner

List of variants reported as pathogenic for Charcot-marie-tooth disease, axonal, type 2DD

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000701.8(ATP1A1):c.143T>G (p.Leu48Arg) rs1553190285
NM_000701.8(ATP1A1):c.1775T>C (p.Ile592Thr) rs1553192086
NM_000701.8(ATP1A1):c.1789G>A (p.Ala597Thr)
NM_000701.8(ATP1A1):c.1798C>A (p.Pro600Thr) rs1553192091
NM_000701.8(ATP1A1):c.1798C>G (p.Pro600Ala) rs1553192091
NM_000701.8(ATP1A1):c.2432A>C (p.Asp811Ala) rs1553192783

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