ClinVar Miner

List of variants in gene MFN2 reported as likely pathogenic for Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001127660.1(MFN2):c.154G>A (p.Glu52Lys) rs1553141017
NM_001127660.1(MFN2):c.526G>A (p.Gly176Ser) rs879253862
NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_014874.3(MFN2):c.334G>A (p.Val112Met) rs757937208
NM_014874.3(MFN2):c.404G>A (p.Arg135Gln) rs1443036026

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