ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease by Dept. of Medical Genetics, Telemark Hospital Trust

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Total variants: 6
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HGVS dbSNP
NM_001005361.2(DNM2):c.1241A>G (p.Lys414Arg) rs199927590
NM_001376.5(DYNC1H1):c.1700G>A (p.Arg567His) rs587781253
NM_014629.4(ARHGEF10):c.1013G>C (p.Arg338Thr) rs587777712
NM_015074.3(KIF1B):c.881A>G (p.Lys294Arg) rs373698346
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
Single allele

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