ClinVar Miner

List of variants in gene GFM2 studied for combined oxidative phosphorylation deficiency

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_032380.5(GFM2):c.43A>G (p.Ile15Val) rs79992455 0.00818
NM_032380.5(GFM2):c.1728T>A (p.Asp576Glu) rs140077535 0.00104
NM_032380.5(GFM2):c.1984T>A (p.Ser662Thr) rs141789665 0.00084
NM_032380.5(GFM2):c.1040T>C (p.Met347Thr) rs774464063 0.00017
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.1229T>A (p.Ile410Lys) rs863224037 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.1758G>C (p.Arg586Ser)
NM_032380.5(GFM2):c.2029-1G>A rs869320704
NM_032380.5(GFM2):c.206+4A>G rs869320703
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)
NM_032380.5(GFM2):c.275A>C (p.Tyr92Ser) rs1554042187
NM_032380.5(GFM2):c.304+1G>A
NM_032380.5(GFM2):c.636del (p.Glu213fs) rs746538436

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