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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)	rs119103267	0.00029
NM_014874.4(MFN2):c.748C>T (p.Arg250Trp)	rs373107074	0.00001
NM_014874.4(MFN2):c.1082A>G (p.His361Arg)	rs1064793170
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp)	rs119103265
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln)	rs879254011
NM_014874.4(MFN2):c.1127T>C (p.Met376Thr)	rs1569854342
NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter)	rs863224968
NM_014874.4(MFN2):c.280C>G (p.Arg94Gly)	rs119103263
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln)	rs28940291
NM_014874.4(MFN2):c.314C>T (p.Thr105Met)	rs863224069
NM_014874.4(MFN2):c.692C>T (p.Ser231Phe)	rs1569842714
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)	rs587777875
NM_014874.4(MFN2):c.839G>A (p.Arg280His)	rs28940294
NM_014874.4(MFN2):c.922G>T (p.Glu308Ter)	rs1553143852

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