ClinVar Miner

List of variants in gene MFN2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr) rs144860227 0.00032
NM_014874.4(MFN2):c.2157G>A (p.Lys719=) rs148441213 0.00017
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys) rs369762154 0.00011
NM_014874.4(MFN2):c.1574A>G (p.Asn525Ser) rs145654854 0.00010
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser) rs147136530 0.00010
NM_014874.4(MFN2):c.1529G>A (p.Arg510Gln) rs376598131 0.00004
NM_014874.4(MFN2):c.58C>T (p.His20Tyr) rs201715603 0.00004
NM_014874.4(MFN2):c.119A>G (p.Asn40Ser) rs1354203259 0.00003
NM_014874.4(MFN2):c.1180C>T (p.Arg394Cys) rs186448929 0.00002
NM_014874.4(MFN2):c.1292C>T (p.Ser431Leu) rs764374251 0.00001
NM_014874.4(MFN2):c.2060A>G (p.Gln687Arg) rs879253910 0.00001
NM_014874.4(MFN2):c.227T>G (p.Leu76Arg) rs28940293 0.00001
NM_014874.4(MFN2):c.232G>A (p.Val78Ile) rs764695837 0.00001
NC_000001.11:g.12014474A>G
NM_014874.4(MFN2):c.1136T>C (p.Leu379Pro) rs1064797107
NM_014874.4(MFN2):c.1151G>A (p.Arg384Gln) rs565042936
NM_014874.4(MFN2):c.1287+6A>G rs778274550
NM_014874.4(MFN2):c.1391A>T (p.Asn464Ile)
NM_014874.4(MFN2):c.1427G>C (p.Arg476Pro) rs1331318781
NM_014874.4(MFN2):c.1621A>G (p.Ile541Val) rs1639383535
NM_014874.4(MFN2):c.1834T>A (p.Ser612Thr) rs2100856360
NM_014874.4(MFN2):c.1857T>A (p.Leu619=) rs1553145409
NM_014874.4(MFN2):c.2018T>C (p.Leu673Pro) rs1569871653
NM_014874.4(MFN2):c.299C>G (p.Ala100Gly) rs1553141707
NM_014874.4(MFN2):c.311+5G>C rs1057519186
NM_014874.4(MFN2):c.32T>G (p.Ile11Ser) rs777625403
NM_014874.4(MFN2):c.358A>G (p.Lys120Glu)
NM_014874.4(MFN2):c.624G>T (p.Glu208Asp) rs1162977959
NM_014874.4(MFN2):c.657T>G (p.Asp219Glu) rs878854989
NM_014874.4(MFN2):c.791C>T (p.Ala264Val) rs1569844072
NM_014874.4(MFN2):c.928C>T (p.Leu310Phe) rs1044699189
NM_014874.4(MFN2):c.964G>A (p.Glu322Lys) rs1569852256

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