ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease

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Total variants: 10
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HGVS dbSNP
NC_000006.11:g.(?_129040519)_(129222690_?)del
NM_001005361.2(DNM2):c.1241A>G (p.Lys414Arg) rs199927590
NM_001097642.2(GJB1):c.50C>G (p.Ser17Cys) rs1555937009
NM_001376.4(DYNC1H1):c.1700G>A (p.Arg567His) rs587781253
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_004281.3(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_004862.3(LITAF):c.146C>T (p.Thr49Met) rs141862602
NM_014629.3(ARHGEF10):c.1013G>C (p.Arg338Thr) rs587777712
NM_015074.3(KIF1B):c.881A>G (p.Lys294Arg) rs373698346
NM_170707.3(LMNA):c.1930C>T (p.Arg644Cys) rs142000963

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