ClinVar Miner

List of variants studied for combined oxidative phosphorylation defect type 20 by Mendelics

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_020442.6(VARS2):c.1345T>C (p.Trp449Arg) rs2249464 0.50569
NM_020442.6(VARS2):c.2038G>T (p.Val680Leu) rs2074506 0.27888
NM_020442.6(VARS2):c.2750G>A (p.Arg917Gln) rs9394021 0.22711
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) rs202201763 0.00039
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs) rs777028011 0.00002
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile) rs587777585 0.00001

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