ClinVar Miner

List of variants in gene MFN2 reported as uncertain significance for Inborn genetic diseases

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Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr) rs144860227 0.00032
NM_014874.4(MFN2):c.1101G>C (p.Gln367His) rs373211062 0.00024
NM_014874.4(MFN2):c.749G>A (p.Arg250Gln) rs140234726 0.00019
NM_014874.4(MFN2):c.1199G>A (p.Arg400Gln) rs138072432 0.00011
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys) rs369762154 0.00011
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.1150C>T (p.Arg384Trp) rs777353788 0.00009
NM_014874.4(MFN2):c.160G>A (p.Ala54Thr) rs61733203 0.00008
NM_014874.4(MFN2):c.179C>T (p.Thr60Met) rs138345244 0.00005
NM_014874.4(MFN2):c.1451C>T (p.Thr484Met) rs375480365 0.00004
NM_014874.4(MFN2):c.1528C>T (p.Arg510Trp) rs146092040 0.00004
NM_014874.4(MFN2):c.58C>T (p.His20Tyr) rs201715603 0.00004
NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser) rs771675874 0.00003
NM_014874.4(MFN2):c.1976G>A (p.Arg659Lys) rs863224063 0.00003
NM_014874.4(MFN2):c.1238A>C (p.Gln413Pro) rs375335641 0.00002
NM_014874.4(MFN2):c.1522T>A (p.Ser508Thr) rs751397699 0.00002
NM_014874.4(MFN2):c.34G>A (p.Val12Ile) rs367715413 0.00002
NM_014874.4(MFN2):c.823C>T (p.Arg275Trp) rs368499636 0.00002
NM_014874.4(MFN2):c.1118G>A (p.Arg373Gln) rs142042485 0.00001
NM_014874.4(MFN2):c.1162G>A (p.Val388Ile) rs924011766 0.00001
NM_014874.4(MFN2):c.1318C>T (p.Arg440Cys) rs756110507 0.00001
NM_014874.4(MFN2):c.1408A>G (p.Ile470Val) rs776174992 0.00001
NM_014874.4(MFN2):c.163A>T (p.Thr55Ser) rs776423551 0.00001
NM_014874.4(MFN2):c.1724G>A (p.Arg575His) rs564375950 0.00001
NM_014874.4(MFN2):c.205G>A (p.Val69Ile) rs28940296 0.00001
NM_014874.4(MFN2):c.2162T>C (p.Ile721Thr) rs150946795 0.00001
NM_014874.4(MFN2):c.236A>G (p.Lys79Arg) rs1262941514 0.00001
NM_014874.4(MFN2):c.415A>G (p.Thr139Ala) rs1349977366 0.00001
NM_014874.4(MFN2):c.776G>A (p.Arg259His) rs755065651 0.00001
NM_014874.4(MFN2):c.816+4C>T rs374018931 0.00001
NM_014874.4(MFN2):c.1003A>G (p.Met335Val) rs1557527886
NM_014874.4(MFN2):c.1014T>G (p.Phe338Leu)
NM_014874.4(MFN2):c.1039-12TG[2] rs780237550
NM_014874.4(MFN2):c.1049C>G (p.Ser350Cys)
NM_014874.4(MFN2):c.1151G>C (p.Arg384Pro)
NM_014874.4(MFN2):c.1177A>G (p.Met393Val)
NM_014874.4(MFN2):c.1210A>G (p.Ile404Val)
NM_014874.4(MFN2):c.1327G>A (p.Val443Ile) rs780450613
NM_014874.4(MFN2):c.1327G>C (p.Val443Leu)
NM_014874.4(MFN2):c.1339G>A (p.Asp447Asn) rs368032696
NM_014874.4(MFN2):c.1381G>C (p.Val461Leu)
NM_014874.4(MFN2):c.1434G>A (p.Met478Ile)
NM_014874.4(MFN2):c.1448C>T (p.Ser483Phe)
NM_014874.4(MFN2):c.1477A>G (p.Met493Val)
NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys) rs369140232
NM_014874.4(MFN2):c.1598T>C (p.Leu533Pro)
NM_014874.4(MFN2):c.1759C>A (p.Pro587Thr) rs771675874
NM_014874.4(MFN2):c.1804_1812del (p.Ser602_Val604del)
NM_014874.4(MFN2):c.1856TTG[2] (p.Val621del)
NM_014874.4(MFN2):c.1895G>A (p.Arg632Gln)
NM_014874.4(MFN2):c.1910C>T (p.Ser637Phe) rs1569870801
NM_014874.4(MFN2):c.1988G>A (p.Arg663His) rs766735605
NM_014874.4(MFN2):c.2096_2101del (p.Leu699_Cys700del) rs2100868068
NM_014874.4(MFN2):c.20G>A (p.Arg7Gln)
NM_014874.4(MFN2):c.2179C>A (p.Leu727Ile)
NM_014874.4(MFN2):c.2189A>G (p.Lys730Arg) rs1373071856
NM_014874.4(MFN2):c.2228G>A (p.Ser743Asn) rs1639696930
NM_014874.4(MFN2):c.2248C>T (p.His750Tyr)
NM_014874.4(MFN2):c.2270G>C (p.Arg757Thr)
NM_014874.4(MFN2):c.248C>G (p.Ser83Cys) rs372451582
NM_014874.4(MFN2):c.288C>G (p.His96Gln)
NM_014874.4(MFN2):c.312-3T>A
NM_014874.4(MFN2):c.316A>G (p.Ser106Gly)
NM_014874.4(MFN2):c.452C>T (p.Ser151Leu) rs2100822731
NM_014874.4(MFN2):c.462GAG[1] (p.Arg155del)
NM_014874.4(MFN2):c.467G>T (p.Ser156Ile) rs1557521949
NM_014874.4(MFN2):c.475-5A>G
NM_014874.4(MFN2):c.581A>C (p.Asp194Ala)
NM_014874.4(MFN2):c.682A>G (p.Asn228Asp)
NM_014874.4(MFN2):c.773A>G (p.Asn258Ser) rs1639058625
NM_014874.4(MFN2):c.796G>A (p.Glu266Lys) rs1569844113
NM_014874.4(MFN2):c.817-4C>T
NM_014874.4(MFN2):c.827A>G (p.Gln276Arg) rs119103264
NM_014874.4(MFN2):c.843T>G (p.Cys281Trp)
NM_014874.4(MFN2):c.937A>G (p.Arg313Gly)

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