ClinVar Miner

List of variants in gene MFN2 reported as uncertain significance by Genesis Genome Database

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met) rs387906991 0.00003
NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser) rs771675874 0.00003
NM_014874.4(MFN2):c.1556G>A (p.Arg519His) rs373809750 0.00001
NM_014874.4(MFN2):c.1724G>A (p.Arg575His) rs564375950 0.00001
NM_014874.4(MFN2):c.707C>T (p.Thr236Met) rs773159585 0.00001
NM_014874.4(MFN2):c.725A>G (p.His242Arg) rs863224065 0.00001
NM_014874.4(MFN2):c.748C>T (p.Arg250Trp) rs373107074 0.00001
NM_014874.4(MFN2):c.1078C>G (p.Gln360Glu) rs1064795818
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.4(MFN2):c.1138C>T (p.His380Tyr) rs1433849760
NM_014874.4(MFN2):c.1287+2T>G rs758721984
NM_014874.4(MFN2):c.1306GAG[1] (p.Glu437del) rs766213721
NM_014874.4(MFN2):c.136del (p.Leu46fs) rs1569803014
NM_014874.4(MFN2):c.2047A>C (p.Asn683His) rs1569871862
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.4(MFN2):c.271G>T (p.Val91Leu) rs1557519001
NM_014874.4(MFN2):c.272T>G (p.Val91Gly) rs1569816262
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln) rs28940291
NM_014874.4(MFN2):c.298G>T (p.Ala100Ser) rs1569816496
NM_014874.4(MFN2):c.430G>A (p.Ala144Thr) rs1569830238
NM_014874.4(MFN2):c.472A>C (p.Lys158Gln) rs1569830408
NM_014874.4(MFN2):c.617C>T (p.Thr206Ile) rs119103266
NM_014874.4(MFN2):c.708+5CTC[2] rs863224842
NM_014874.4(MFN2):c.718T>C (p.Phe240Leu) rs1557525005
NM_014874.4(MFN2):c.796G>C (p.Glu266Gln) rs1569844113

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