List of variants in gene MFN2 studied for Neuropathy, hereditary motor and sensory, type 6A

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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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.1253G>A (p.Arg418Gln)	rs766998571	0.00001
NM_014874.4(MFN2):c.1143GGC[1] (p.Ala383del)	rs1553144065
NM_014874.4(MFN2):c.1198C>T (p.Arg400Ter)	rs879253939
NM_014874.4(MFN2):c.1385A>G (p.Tyr462Cys)	rs2100849130
NM_014874.4(MFN2):c.2120G>A (p.Arg707Gln)
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.404G>T (p.Arg135Leu)
NM_014874.4(MFN2):c.494A>G (p.His165Arg)	rs863224970
NM_014874.4(MFN2):c.839G>A (p.Arg280His)	rs28940294

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