ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2 by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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NM_001005360.2(DNM2):c.1021G>A (p.Glu341Lys) rs864309705
NM_001005360.2(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
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_001605.2(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.3(MFN2):c.730G>A (p.Val244Met) rs879253777
NM_014874.3(MFN2):c.746C>T (p.Ser249Phe) rs794729198
NM_015271.5(TRIM2):c.2000A>C (p.Asp667Ala) rs879253863

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