List of variants in gene MFN2 reported as pathogenic by GeneDx

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.647T>C (p.Phe216Ser)	rs387906990	0.00004
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.1198C>T (p.Arg400Ter)	rs879253939
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)	rs28940292
NM_014874.4(MFN2):c.227T>C (p.Leu76Pro)	rs28940293
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)	rs119103263
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln)	rs28940291
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)	rs119103268
NM_014874.4(MFN2):c.382C>T (p.His128Tyr)	rs2100822486
NM_014874.4(MFN2):c.494A>G (p.His165Arg)	rs863224970
NM_014874.4(MFN2):c.628G>T (p.Asp210Tyr)	rs1064794315
NM_014874.4(MFN2):c.839G>A (p.Arg280His)	rs28940294

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