ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease, axonal, type 2T

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Total variants: 19
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HGVS dbSNP
NM_000902.4(MME):c.1265C>A (p.Ala422Asp) rs777476150
NM_000902.4(MME):c.1272del (p.Arg425fs) rs1060499935
NM_000902.4(MME):c.1564C>T (p.Gln522Ter) rs1553765316
NM_000902.4(MME):c.1861T>C (p.Cys621Arg) rs879253752
NM_000902.4(MME):c.1904G>A (p.Gly635Asp) rs151302020
NM_000902.4(MME):c.439+2T>A rs1057519024
NM_000902.4(MME):c.467del (p.Pro156fs) rs749320057
NM_000902.4(MME):c.654+1G>A rs1057519023
NM_000902.4(MME):c.655-2A>G rs765591205
NM_000902.4(MME):c.661C>T (p.Gln221Ter) rs879253751
NM_000902.4(MME):c.71G>A (p.Trp24Ter) rs886039755
NM_006736.6(DNAJB2):c.343G>T (p.Glu115Ter) rs797045039
NM_007287.3(MME):c.1666C>T (p.Pro556Ser) rs1559961997
NM_007287.3(MME):c.1972G>A (p.Ala658Thr) rs1559963660
NM_007289.4(MME):c.1574A>C (p.Lys525Thr)
NM_007289.4(MME):c.202C>T (p.Arg68Ter)
NM_007289.4(MME):c.2072C>T (p.Ala691Val) rs1414684441
NM_007289.4(MME):c.307C>T (p.Arg103Cys)
NM_007289.4(MME):c.531del (p.Lys177fs) rs1190163112

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