ClinVar Miner

List of variants in gene DNM2 studied for Charcot-Marie-Tooth disease

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Total variants: 8
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HGVS dbSNP
NM_001005360.2(DNM2):c.1609G>T (p.Gly537Cys) rs121909093
NM_001005360.2(DNM2):c.1664_1671+1del rs1568314339
NM_001005360.2(DNM2):c.1675_1677del (p.Lys559del)
NM_001005360.2(DNM2):c.1684A>G (p.Lys562Glu) rs121909088
NM_001005360.2(DNM2):c.1709T>A (p.Leu570His) rs121909094
NM_001005360.2(DNM2):c.1739T>C (p.Met580Thr)
NM_001005361.2(DNM2):c.1241A>G (p.Lys414Arg) rs199927590
NM_001005361.2(DNM2):c.1681_1683AAG[1] (p.Lys562del)

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