ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease, dominant intermediate B by Invitae

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Total variants: 8
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HGVS dbSNP
NM_001005360.2(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp) rs121909090
NM_001005360.2(DNM2):c.1106G>A (p.Arg369Gln) rs121909089
NM_001005360.2(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001005360.2(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001005360.2(DNM2):c.1853C>A (p.Ala618Asp) rs1555715869
NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_004945.3(DNM2):c.1597G>A (p.Gly533Ser) rs121909093

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