ClinVar Miner

List of variants in gene combination LOC129929426, MFN2 reported as uncertain significance for Charcot-Marie-Tooth disease type 2

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.1709A>G (p.Asn570Ser) rs376925978 0.00006
NM_014874.4(MFN2):c.1675C>T (p.Pro559Ser) rs1369308807 0.00001
NM_014874.4(MFN2):c.1679A>G (p.Lys560Arg) rs754458177 0.00001
NM_014874.4(MFN2):c.1687C>T (p.Arg563Cys) rs747733583 0.00001
NM_014874.4(MFN2):c.1688G>A (p.Arg563His) rs771845093 0.00001
NM_014874.4(MFN2):c.1691G>A (p.Arg564Gln) rs746213217 0.00001
NM_014874.4(MFN2):c.1701G>A (p.Met567Ile) rs776026191 0.00001
NM_014874.4(MFN2):c.1642G>A (p.Gly548Arg) rs373368672
NM_014874.4(MFN2):c.1642G>C (p.Gly548Arg)
NM_014874.4(MFN2):c.1649C>A (p.Thr550Asn) rs2100853288
NM_014874.4(MFN2):c.1651A>G (p.Met551Val) rs2100853294
NM_014874.4(MFN2):c.1653G>A (p.Met551Ile) rs1553145126
NM_014874.4(MFN2):c.1654C>G (p.Leu552Val)
NM_014874.4(MFN2):c.1659G>A (p.Val553=) rs886045220
NM_014874.4(MFN2):c.1664G>C (p.Arg555Thr)
NM_014874.4(MFN2):c.1666T>C (p.Phe556Leu)
NM_014874.4(MFN2):c.1682A>C (p.Asn561Thr) rs778719488
NM_014874.4(MFN2):c.1690C>G (p.Arg564Gly)
NM_014874.4(MFN2):c.1690C>T (p.Arg564Trp)
NM_014874.4(MFN2):c.1693G>A (p.Ala565Thr) rs1639388309
NM_014874.4(MFN2):c.1694C>A (p.Ala565Asp) rs770243526
NM_014874.4(MFN2):c.1698G>C (p.Leu566Phe) rs1557532315
NM_014874.4(MFN2):c.1699A>G (p.Met567Val) rs863224067
NM_014874.4(MFN2):c.1708A>G (p.Asn570Asp)
NM_014874.4(MFN2):c.1713C>G (p.Asp571Glu)
NM_014874.4(MFN2):c.1716+5G>A rs1639389952
NM_014874.4(MFN2):c.1716+6C>G rs1569866132
NM_014874.4(MFN2):c.1716+8A>G rs1639390139

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