ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (135):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000166.6(GJB1):c.-16-2A>G rs751230398
NM_000530.8(MPZ):c.403A>C (p.Ile135Leu) rs879253858
NM_001127660.1(MFN2):c.1946G>C (p.Arg649Pro) rs763492075
NM_001127660.1(MFN2):c.479T>G (p.Val160Gly) rs879253861
NM_001127660.1(MFN2):c.526G>A (p.Gly176Ser) rs879253862
NM_001127660.1(MFN2):c.730G>T (p.Val244Leu) rs879253777
NM_001190716.2(DNM2):c.1021G>A (p.Glu341Lys) rs864309705
NM_001190716.2(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr) rs1563518388
NM_003680.3(YARS1):c.586G>C (p.Glu196Gln) rs121908834
NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile) rs202219398
NM_006070.6(TFG):c.854C>T (p.Pro285Leu) rs207482230
NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.3(MFN2):c.730G>A (p.Val244Met) rs879253777
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe) rs794729198
NM_015271.5(TRIM2):c.2000A>C (p.Asp667Ala) rs879253863
NM_024577.3(SH3TC2):c.1A>G (p.Met1Val) rs864309709
NM_024577.3(SH3TC2):c.820_821insT (p.Lys274fs) rs879253859
Single allele

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