ClinVar Miner

List of variants studied for combined oxidative phosphorylation defect type 20 by 3billion, Medical Genetics

Included ClinVar conditions (1):
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile) rs587777585 0.00001
NM_020442.6(VARS2):c.503G>A (p.Arg168His) rs776585917 0.00001
NM_020442.6(VARS2):c.1166-15G>T rs2150559040
NM_020442.6(VARS2):c.2692G>T (p.Glu898Ter) rs2150570235

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