ClinVar Miner

List of variants studied for Mitochondrial complex 4 deficiency, nuclear type 7 by Fulgent Genetics, Fulgent Genetics

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001863.5(COX6B1):c.107-16A>G rs187740487 0.00049
NM_001863.5(COX6B1):c.243G>A (p.Thr81=) rs141958404 0.00039
NM_001863.5(COX6B1):c.-11-8G>A rs200312775 0.00005
NM_001863.5(COX6B1):c.212C>T (p.Thr71Ile) rs376973042 0.00003
NM_001863.5(COX6B1):c.59G>A (p.Arg20His) rs121909602 0.00002
NM_001863.5(COX6B1):c.157G>A (p.Val53Met) rs201223537 0.00001
NM_001863.5(COX6B1):c.200C>T (p.Thr67Ile) rs377025450 0.00001
NM_001863.5(COX6B1):c.250G>A (p.Gly84Arg) rs368231191 0.00001
NM_001863.5(COX6B1):c.*10A>G
NM_001863.5(COX6B1):c.18G>C (p.Glu6Asp)
NM_001863.5(COX6B1):c.208-19T>G
NM_001863.5(COX6B1):c.258C>G (p.Ile86Met)

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