ClinVar Miner

List of variants in gene MFN2 reported as uncertain significance by Molecular Genetics Laboratory, London Health Sciences Centre

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.749G>A (p.Arg250Gln) rs140234726 0.00019
NM_014874.4(MFN2):c.474+4A>G rs141974160 0.00014
NM_014874.4(MFN2):c.1574A>G (p.Asn525Ser) rs145654854 0.00010
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser) rs147136530 0.00010
NM_014874.4(MFN2):c.58C>T (p.His20Tyr) rs201715603 0.00004
NM_014874.4(MFN2):c.1181G>A (p.Arg394His) rs538243357 0.00003
NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser) rs771675874 0.00003
NM_014874.4(MFN2):c.1988G>T (p.Arg663Leu) rs766735605 0.00003
NM_014874.4(MFN2):c.538A>C (p.Ser180Arg) rs756851126 0.00002
NM_014874.4(MFN2):c.1118G>A (p.Arg373Gln) rs142042485 0.00001
NM_014874.4(MFN2):c.1488C>A (p.Asp496Glu) rs746806455 0.00001
NM_014874.4(MFN2):c.946A>G (p.Lys316Glu) rs1424551887 0.00001
NM_014874.4(MFN2):c.1085C>G (p.Thr362Arg) rs387906991
NM_014874.4(MFN2):c.1393-8G>A rs1639330742
NM_014874.4(MFN2):c.159C>G (p.Ser53Arg) rs61733200
NM_014874.4(MFN2):c.176-3C>T rs975369655
NM_014874.4(MFN2):c.2093A>G (p.His698Arg) rs1060501916
NM_014874.4(MFN2):c.2120_2128del (p.Arg707_Asn709del) rs1639600409
NM_014874.4(MFN2):c.2171T>G (p.Leu724Arg) rs1557537346
NM_014874.4(MFN2):c.262A>G (p.Ile88Val) rs1569816194
NM_014874.4(MFN2):c.292A>G (p.Lys98Glu) rs1553141706
NM_014874.4(MFN2):c.467G>T (p.Ser156Ile) rs1557521949
NM_014874.4(MFN2):c.628G>C (p.Asp210His) rs1064794315
NM_014874.4(MFN2):c.661G>C (p.Asp221His) rs1569842525
NM_014874.4(MFN2):c.692C>G (p.Ser231Cys) rs1569842714
NM_014874.4(MFN2):c.757A>T (p.Ile253Phe) rs1639057845
NM_014874.4(MFN2):c.796G>A (p.Glu266Lys) rs1569844113
NM_014874.4(MFN2):c.796G>C (p.Glu266Gln) rs1569844113
NM_014874.4(MFN2):c.802G>A (p.Glu268Lys) rs1453267972
NM_014874.4(MFN2):c.913T>G (p.Ser305Ala) rs1639171448

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