List of variants in gene GFM2 reported as uncertain significance for Combined oxidative phosphorylation deficiency 39

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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_032380.5(GFM2):c.1040T>C (p.Met347Thr)	rs774464063	0.00017
NM_032380.5(GFM2):c.2231G>A (p.Arg744Gln)	rs151093565	0.00012
NM_032380.5(GFM2):c.431-3T>C	rs369071633	0.00003
NM_032380.5(GFM2):c.569G>A (p.Arg190Gln)	rs761283105	0.00003
NM_032380.5(GFM2):c.200T>C (p.Ile67Thr)	rs181900110	0.00002
NM_032380.5(GFM2):c.461G>A (p.Arg154Gln)	rs371589931	0.00002
NM_032380.5(GFM2):c.64-16_64-3del	rs751852874	0.00001
NM_032380.5(GFM2):c.1124T>C (p.Leu375Pro)
NM_032380.5(GFM2):c.1615C>A (p.His539Asn)
NM_032380.5(GFM2):c.1642A>G (p.Lys548Glu)
NM_032380.5(GFM2):c.1758G>C (p.Arg586Ser)
NM_032380.5(GFM2):c.2164C>T (p.Gln722Ter)
NM_032380.5(GFM2):c.2206A>G (p.Ile736Val)
NM_032380.5(GFM2):c.240T>G (p.Asp80Glu)

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