List of variants reported as pathogenic for combined oxidative phosphorylation defect type 20

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)	rs202201763	0.00039
NM_020442.6(VARS2):c.2467-2A>G	rs200075594	0.00011
NM_020442.6(VARS2):c.511C>T (p.Arg171Trp)	rs139515727	0.00011
NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter)	rs143821815	0.00005
NM_020442.6(VARS2):c.2038-1G>A	rs769768815	0.00004
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs)	rs777028011	0.00002
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile)	rs587777585	0.00001
NM_020442.6(VARS2):c.1060G>A (p.Asp354Asn)	rs753490759	0.00001
NM_020442.6(VARS2):c.1400G>A (p.Arg467His)	rs775439829	0.00001
NM_020442.6(VARS2):c.1045G>A (p.Ala349Thr)	rs587777583
NM_020442.6(VARS2):c.1346G>A (p.Trp449Ter)
NM_020442.6(VARS2):c.1787C>A (p.Ala596Asp)	rs587777584
NM_020442.6(VARS2):c.2149G>A (p.Ala717Thr)	rs772718755
NM_020442.6(VARS2):c.2758T>C (p.Tyr920His)	rs1794768738
NM_020442.6(VARS2):c.420del (p.Met141fs)

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