ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.2204+15T>C rs77262016 0.07571
NM_014874.4(MFN2):c.1569C>T (p.Ser523=) rs1042837 0.04459
NM_014874.4(MFN2):c.159C>T (p.Ser53=) rs61733200 0.02240
NM_014874.4(MFN2):c.2205-13C>A rs76020240 0.01362
NM_014874.4(MFN2):c.1039-19G>A rs74052923 0.01120
NM_014874.4(MFN2):c.970+19G>A rs75865135 0.00707
NM_014874.4(MFN2):c.957C>T (p.Gly319=) rs41278632 0.00690
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile) rs142271930 0.00621
NM_014874.4(MFN2):c.744C>T (p.Leu248=) rs61733205 0.00591
NM_014874.4(MFN2):c.*15G>A rs141339523 0.00292
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) rs41278630 0.00221
NM_014874.4(MFN2):c.1179G>A (p.Met393Ile) rs12069578 0.00153
NM_014874.4(MFN2):c.165C>T (p.Thr55=) rs77458527 0.00106
NM_014874.4(MFN2):c.408A>T (p.Val136=) rs78814413 0.00106
NM_014874.4(MFN2):c.150C>A (p.Ile50=) rs78841746 0.00089
NM_014874.4(MFN2):c.891C>T (p.Ala297=) rs11554508 0.00087
NM_014874.4(MFN2):c.1452G>A (p.Thr484=) rs150043585 0.00083
NM_014874.4(MFN2):c.-4-13G>T rs373679523 0.00060
NM_014874.4(MFN2):c.1495+9C>T rs375494746 0.00059
NM_014874.4(MFN2):c.756C>T (p.Asn252=) rs137960129 0.00053
NM_014874.4(MFN2):c.1827C>T (p.Ser609=) rs138724074 0.00039
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr) rs144860227 0.00032
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_014874.4(MFN2):c.749G>A (p.Arg250Gln) rs140234726 0.00019
NM_014874.4(MFN2):c.2157G>A (p.Lys719=) rs148441213 0.00017
NM_014874.4(MFN2):c.444C>T (p.Thr148=) rs373038884 0.00017
NM_014874.4(MFN2):c.474+4A>G rs141974160 0.00014
NM_014874.4(MFN2):c.870C>T (p.Gly290=) rs368302487 0.00014
NM_014874.4(MFN2):c.1574A>G (p.Asn525Ser) rs145654854 0.00010
NM_014874.4(MFN2):c.2112C>T (p.Asp704=) rs374371748 0.00010
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser) rs147136530 0.00010
NM_014874.4(MFN2):c.2130G>A (p.Leu710=) rs755608041 0.00007
NM_014874.4(MFN2):c.1269G>A (p.Thr423=) rs145994616 0.00004
NM_014874.4(MFN2):c.1529G>A (p.Arg510Gln) rs376598131 0.00004
NM_014874.4(MFN2):c.58C>T (p.His20Tyr) rs201715603 0.00004
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met) rs387906991 0.00003
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.723C>T (p.Phe241=) rs764912025 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.1717-12T>G rs757942090 0.00001
NM_014874.4(MFN2):c.1717-15T>C rs752294693 0.00001
NM_014874.4(MFN2):c.1806C>T (p.Ser602=) rs201258935 0.00001
NM_014874.4(MFN2):c.1815C>T (p.Thr605=) rs751029047 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.1476C>T (p.Thr492=) rs143428548
NM_014874.4(MFN2):c.1495+10del rs754692803
NM_014874.4(MFN2):c.159C>G (p.Ser53Arg) rs61733200
NM_014874.4(MFN2):c.176-3C>T rs975369655
NM_014874.4(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.4(MFN2):c.2028C>T (p.Val676=) rs780836559
NM_014874.4(MFN2):c.2069+18A>G rs551549595
NM_014874.4(MFN2):c.2070-11C>T rs759614417
NM_014874.4(MFN2):c.2070-8C>T rs1321940926
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.280C>T (p.Arg94Trp) rs119103263
NM_014874.4(MFN2):c.292A>G (p.Lys98Glu) rs1553141706
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014874.4(MFN2):c.318C>T (p.Ser106=) rs778937659
NM_014874.4(MFN2):c.467G>T (p.Ser156Ile) rs1557521949
NM_014874.4(MFN2):c.564C>T (p.Cys188=) rs536007087
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.708+10C>T rs1639049020
NM_014874.4(MFN2):c.751C>G (p.Pro251Ala) rs28940295
NM_014874.4(MFN2):c.757A>T (p.Ile253Phe) rs1639057845
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys) rs587777875
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.839G>A (p.Arg280His) rs28940294
NM_014874.4(MFN2):c.913T>G (p.Ser305Ala) rs1639171448

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