ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;

Included ClinVar conditions (2):
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Total variants: 12
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HGVS dbSNP
MFN2, EX7-8DEL
NM_001127660.1(MFN2):c.107_109AGA[2] (p.Lys38del) rs1478175861
NM_001127660.1(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_001127660.1(MFN2):c.154G>A (p.Glu52Lys) rs1553141017
NM_014874.3(MFN2):c.1143_1145GGC[1] (p.Ala383del) rs1553144065
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014874.3(MFN2):c.334G>A (p.Val112Met)
NM_014874.3(MFN2):c.404G>A (p.Arg135Gln) rs1443036026
NM_014874.3(MFN2):c.491C>T (p.Ala164Val) rs1553142699
NM_014874.3(MFN2):c.647T>C (p.Phe216Ser) rs387906990

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