ClinVar Miner

List of variants in gene MFN2 reported as likely pathogenic for Charcot-Marie-Tooth disease

Included ClinVar conditions (134):
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_001127660.1(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_001127660.1(MFN2):c.154G>A (p.Glu52Lys) rs1553141017
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.720C>G (p.Phe240Leu) rs864622480
NM_014874.3(MFN2):c.1126A>G (p.Met376Val) rs863224967
NM_014874.3(MFN2):c.1252C>T (p.Arg418Ter) rs1057517987
NM_014874.3(MFN2):c.1426C>G (p.Arg476Gly) rs1266361856
NM_014874.3(MFN2):c.1555C>T (p.Arg519Cys) rs369140232
NM_014874.3(MFN2):c.1839dup (p.Thr614fs) rs1553145402
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
NM_014874.3(MFN2):c.436C>T (p.Leu146Phe) rs863224969
NM_014874.3(MFN2):c.497C>T (p.Ala166Val) rs1557522849
NM_014874.3(MFN2):c.572T>C (p.Leu191Pro) rs879254288
NM_014874.3(MFN2):c.653T>C (p.Leu218Pro) rs879253925
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu)
NM_014874.4(MFN2):c.272T>G (p.Val91Gly)
NM_014874.4(MFN2):c.616A>G (p.Thr206Ala)
NM_014874.4(MFN2):c.638T>A (p.Ile213Asn)
NM_014874.4(MFN2):c.839G>C (p.Arg280Pro)

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