ClinVar Miner

List of variants in gene MFN2 reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.541G>A (p.Val181Met) rs863224064 0.00001
NM_014874.4(MFN2):c.725A>G (p.His242Arg) rs863224065 0.00001
NM_014874.4(MFN2):c.1078C>G (p.Gln360Glu) rs1064795818
NM_014874.4(MFN2):c.1082A>G (p.His361Arg) rs1064793170
NM_014874.4(MFN2):c.1126A>G (p.Met376Val) rs863224967
NM_014874.4(MFN2):c.1252C>T (p.Arg418Ter) rs1057517987
NM_014874.4(MFN2):c.1409_1410del (p.Ile470fs) rs1569862384
NM_014874.4(MFN2):c.311G>A (p.Arg104Gln) rs863224068
NM_014874.4(MFN2):c.392A>G (p.Asn131Ser) rs776404901
NM_014874.4(MFN2):c.406dup (p.Val136fs) rs759844257
NM_014874.4(MFN2):c.436C>T (p.Leu146Phe) rs863224969
NM_014874.4(MFN2):c.659C>T (p.Ala220Val) rs879254010
NM_014874.4(MFN2):c.677_688del (p.Val226_Ser229del) rs1569842627
NM_014874.4(MFN2):c.711A>T (p.Glu237Asp) rs1557525000
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014874.4(MFN2):c.818T>G (p.Val273Gly) rs1458700065
NM_014874.4(MFN2):c.825GCA[3] (p.Gln276dup) rs1553143791
NM_014874.4(MFN2):c.830A>G (p.His277Arg) rs1064794316
NM_014874.4(MFN2):c.838C>T (p.Arg280Cys) rs879253957
NM_014874.4(MFN2):c.898C>T (p.Arg300Cys) rs863224066

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