ClinVar Miner

List of variants in gene MFN2 reported as pathogenic for not provided

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Gene type:
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_014874.4(MFN2):c.647T>C (p.Phe216Ser) rs387906990 0.00004
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met) rs387906991 0.00003
NM_014874.4(MFN2):c.2258dup (p.Gln754fs) rs773371488 0.00001
NM_014874.4(MFN2):c.748C>T (p.Arg250Trp) rs373107074 0.00001
NM_014874.4(MFN2):c.1082A>G (p.His361Arg) rs1064793170
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln) rs879254011
NM_014874.4(MFN2):c.1126A>G (p.Met376Val) rs863224967
NM_014874.4(MFN2):c.1127T>C (p.Met376Thr) rs1569854342
NM_014874.4(MFN2):c.1148C>T (p.Ala383Val) rs794727035
NM_014874.4(MFN2):c.1198C>T (p.Arg400Ter) rs879253939
NM_014874.4(MFN2):c.1252C>T (p.Arg418Ter) rs1057517987
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter) rs863224968
NM_014874.4(MFN2):c.227T>C (p.Leu76Pro) rs28940293
NM_014874.4(MFN2):c.280C>G (p.Arg94Gly) rs119103263
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln) rs28940291
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014874.4(MFN2):c.314C>T (p.Thr105Met) rs863224069
NM_014874.4(MFN2):c.382C>T (p.His128Tyr) rs2100822486
NM_014874.4(MFN2):c.494A>G (p.His165Arg) rs863224970
NM_014874.4(MFN2):c.617C>T (p.Thr206Ile) rs119103266
NM_014874.4(MFN2):c.628G>T (p.Asp210Tyr) rs1064794315
NM_014874.4(MFN2):c.692C>T (p.Ser231Phe) rs1569842714
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014874.4(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_014874.4(MFN2):c.922G>T (p.Glu308Ter) rs1553143852

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