ClinVar Miner

List of variants in gene MFN2 reported by OMIM

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
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
MFN2, 3-BP DEL, ARG343DEL
NM_014874.3:c.600_816del
NM_014874.4(MFN2):c.1071G>C (p.Lys357Asn) rs119103261
NM_014874.4(MFN2):c.107AGA[2] (p.Lys38del) rs1478175861
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.4(MFN2):c.1392+2T>C rs111723244
NM_014874.4(MFN2):c.205G>T (p.Val69Phe) rs28940296
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.4(MFN2):c.227T>C (p.Leu76Pro) rs28940293
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.322G>A (p.Gly108Arg) rs1569829573
NM_014874.4(MFN2):c.491C>T (p.Ala164Val) rs1553142699
NM_014874.4(MFN2):c.493C>G (p.His165Asp) rs119103262
NM_014874.4(MFN2):c.617C>T (p.Thr206Ile) rs119103266
NM_014874.4(MFN2):c.751C>G (p.Pro251Ala) rs28940295
NM_014874.4(MFN2):c.827A>G (p.Gln276Arg) rs119103264
NM_014874.4(MFN2):c.839G>A (p.Arg280His) rs28940294

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