ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by Dept. of Medical Genetics, Telemark Hospital Trust

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Total variants: 27
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HGVS dbSNP
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) rs587781246
NM_001005361.2(DNM2):c.1241A>G (p.Lys414Arg) rs199927590
NM_001113491.2(SEPTIN9):c.866G>A (p.Arg289His) rs587781247
NM_001126131.1(POLG):c.[1491G>C(;)2243G>C]
NM_001376.5(DYNC1H1):c.1700G>A (p.Arg567His) rs587781253
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu) rs587781250
NM_001605.2(AARS1):c.497T>G (p.Ile166Ser) rs199997425
NM_002047.4(GARS1):c.95T>C (p.Leu32Pro) rs863223328
NM_004082.4(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344
NM_006400.4(DCTN2):c.337C>T (p.His113Tyr) rs863223327
NM_014629.4(ARHGEF10):c.1013G>C (p.Arg338Thr) rs587777712
NM_014629.4(ARHGEF10):c.2197C>T (p.His733Tyr) rs147531758
NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_015046.5(SETX):c.[59G>A(;)3809C>T]
NM_015046.7(SETX):c.3075_3076insTGA (p.Arg1026Ter) rs587781249
NM_015046.7(SETX):c.6792A>G (p.Ile2264Met) rs148041889
NM_015074.3(KIF1B):c.881A>G (p.Lys294Arg) rs373698346
NM_016156.5(MTMR2):c.*53G>A rs587779387
NM_016156.5(MTMR2):c.810A>C (p.Leu270Phe) rs587779385
NM_022041.3(GAN):c.1084G>A (p.Glu362Lys) rs587779384
NM_022041.3(GAN):c.23C>G (p.Ser8Cys) rs587781251
NM_022041.3(GAN):c.730A>G (p.Ile244Val) rs200749953
NM_024577.3(SH3TC2):c.1342G>C (p.Asp448His) rs587781252
NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.3(SH3TC2):c.3550A>G (p.Met1184Val) rs142451273
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
Single allele

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