ClinVar Miner

List of variants in gene MFN2 reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.160G>A (p.Ala54Thr) rs61733203 0.00008
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.1402C>T (p.Arg468Cys) rs746852710 0.00002
NM_014874.4(MFN2):c.187A>C (p.Asn63His) rs761216583 0.00002
NM_014874.4(MFN2):c.1162G>A (p.Val388Ile) rs924011766 0.00001
NM_014874.4(MFN2):c.1202T>G (p.Leu401Arg) rs1161492440 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.1782C>T (p.Leu594=) rs950932066 0.00001
NM_014874.4(MFN2):c.236A>G (p.Lys79Arg) rs1262941514 0.00001
NM_014874.4(MFN2):c.31A>G (p.Ile11Val) rs763735861 0.00001
NM_014874.4(MFN2):c.420T>G (p.Asp140Glu) rs767640801 0.00001
NM_014874.4(MFN2):c.608T>C (p.Ile203Thr) rs200715905 0.00001
NM_014874.4(MFN2):c.107AGA[2] (p.Lys38del) rs1478175861
NM_014874.4(MFN2):c.1085C>G (p.Thr362Arg) rs387906991
NM_014874.4(MFN2):c.1127T>C (p.Met376Thr) rs1569854342
NM_014874.4(MFN2):c.1128G>A (p.Met376Ile) rs1553144059
NM_014874.4(MFN2):c.1132T>C (p.Ser378Pro) rs1569854381
NM_014874.4(MFN2):c.1143GGC[1] (p.Ala383del) rs1553144065
NM_014874.4(MFN2):c.1144G>C (p.Ala382Pro) rs1553144066
NM_014874.4(MFN2):c.128T>G (p.Phe43Cys)
NM_014874.4(MFN2):c.1327_1328del (p.Val443fs) rs2100848845
NM_014874.4(MFN2):c.1427G>C (p.Arg476Pro) rs1331318781
NM_014874.4(MFN2):c.1579G>C (p.Asp527His) rs1569865413
NM_014874.4(MFN2):c.183C>T (p.Tyr61=) rs1638734576
NM_014874.4(MFN2):c.1A>G (p.Met1Val) rs1557515730
NM_014874.4(MFN2):c.2041G>A (p.Gly681Ser) rs2100858769
NM_014874.4(MFN2):c.2120G>A (p.Arg707Gln)
NM_014874.4(MFN2):c.2222T>C (p.Leu741Ser) rs1553146559
NM_014874.4(MFN2):c.2227A>C (p.Ser743Arg) rs1553146561
NM_014874.4(MFN2):c.2228G>A (p.Ser743Asn) rs1639696930
NM_014874.4(MFN2):c.239G>T (p.Gly80Val) rs139827903
NM_014874.4(MFN2):c.292A>G (p.Lys98Glu) rs1553141706
NM_014874.4(MFN2):c.311G>T (p.Arg104Leu) rs863224068
NM_014874.4(MFN2):c.373G>A (p.Gly125Arg) rs1569829787
NM_014874.4(MFN2):c.467G>T (p.Ser156Ile) rs1557521949
NM_014874.4(MFN2):c.524C>T (p.Ala175Val)
NM_014874.4(MFN2):c.626T>G (p.Leu209Arg) rs1639043428
NM_014874.4(MFN2):c.657T>A (p.Asp219Glu)
NM_014874.4(MFN2):c.657T>G (p.Asp219Glu) rs878854989
NM_014874.4(MFN2):c.665T>C (p.Val222Ala) rs2100831825
NM_014874.4(MFN2):c.683A>C (p.Asn228Thr) rs1569842663
NM_014874.4(MFN2):c.711A>T (p.Glu237Asp) rs1557525000
NM_014874.4(MFN2):c.722_724dup (p.Phe241_His242insLeu) rs2100832392

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