ClinVar Miner

List of variants reported as likely benign for Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 by Illumina Laboratory Services, Illumina

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_024996.7(GFM1):c.*539C>T rs75254073 0.00563
NM_024996.7(GFM1):c.1593C>T (p.Ala531=) rs114754676 0.00399
NM_024996.7(GFM1):c.960A>C (p.Pro320=) rs145970222 0.00196
NM_024996.7(GFM1):c.2070+11T>G rs150000838 0.00100
NM_024996.7(GFM1):c.1343A>G (p.Asp448Gly) rs146951325 0.00080
NM_024996.7(GFM1):c.*116C>T rs115593809 0.00039
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys) rs191462023 0.00014
NM_024996.7(GFM1):c.-73C>T rs116614958

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