ClinVar Miner

List of variants studied for Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome by Department of Paediatrics and Adolescent Medicine, The University of Hong Kong

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_016035.5(COQ4):c.371G>T (p.Gly124Val) rs1412692974
NM_016035.5(COQ4):c.402+1G>C rs747779231

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