ClinVar Miner

List of variants in gene MFN2 reported as likely benign for Charcot-Marie-Tooth disease

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Total variants: 36
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HGVS dbSNP
NM_014874.3(MFN2):c.*15G>A rs141339523
NM_014874.3(MFN2):c.-4-13G>T rs373679523
NM_014874.3(MFN2):c.1269G>A (p.Thr423=) rs145994616
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014874.3(MFN2):c.1452G>A (p.Thr484=) rs150043585
NM_014874.3(MFN2):c.150C>A (p.Ile50=) rs78841746
NM_014874.3(MFN2):c.1641C>T (p.Leu547=) rs140924661
NM_014874.3(MFN2):c.165C>T (p.Thr55=) rs77458527
NM_014874.3(MFN2):c.1724G>A (p.Arg575His) rs564375950
NM_014874.3(MFN2):c.1806C>T (p.Ser602=) rs201258935
NM_014874.3(MFN2):c.1827C>T (p.Ser609=) rs138724074
NM_014874.3(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.3(MFN2):c.2112C>T (p.Asp704=) rs374371748
NM_014874.3(MFN2):c.2157G>A (p.Lys719=) rs148441213
NM_014874.3(MFN2):c.408A>T (p.Val136=) rs78814413
NM_014874.3(MFN2):c.444C>T (p.Thr148=) rs373038884
NM_014874.3(MFN2):c.564C>T (p.Cys188=) rs536007087
NM_014874.3(MFN2):c.723C>T (p.Phe241=) rs764912025
NM_014874.3(MFN2):c.756C>T (p.Asn252=) rs137960129
NM_014874.3(MFN2):c.809T>C (p.Met270Thr) rs771996573
NM_014874.3(MFN2):c.870C>T (p.Gly290=) rs368302487
NM_014874.3(MFN2):c.891C>T (p.Ala297=) rs11554508
NM_014874.3(MFN2):c.892G>A (p.Gly298Arg) rs41278630
NM_014874.4(MFN2):c.1476C>T (p.Thr492=)
NM_014874.4(MFN2):c.1495+10del
NM_014874.4(MFN2):c.1529G>A (p.Arg510Gln) rs376598131
NM_014874.4(MFN2):c.1717-12T>G
NM_014874.4(MFN2):c.1717-15T>C
NM_014874.4(MFN2):c.1815C>T (p.Thr605=) rs751029047
NM_014874.4(MFN2):c.2028C>T (p.Val676=)
NM_014874.4(MFN2):c.2069+18A>G
NM_014874.4(MFN2):c.2070-11C>T
NM_014874.4(MFN2):c.2070-8C>T
NM_014874.4(MFN2):c.2130G>A (p.Leu710=)
NM_014874.4(MFN2):c.318C>T (p.Ser106=)
NM_014874.4(MFN2):c.708+10C>T

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