List of variants reported as uncertain significance for combined oxidative phosphorylation defect type 20 by Baylor Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_020442.6(VARS2):c.2551C>T (p.Arg851Cys)	rs138855624	0.00129
NM_020442.6(VARS2):c.2624C>T (p.Pro875Leu)	rs376070793	0.00028
NM_020442.6(VARS2):c.1954C>T (p.Arg652Trp)	rs148448090	0.00015
NM_020442.6(VARS2):c.736T>C (p.Cys246Arg)	rs140184279	0.00011
NM_020442.6(VARS2):c.3005G>A (p.Arg1002Gln)	rs767441762	0.00010
NM_020442.6(VARS2):c.3092T>G (p.Leu1031Arg)	rs201946203	0.00006
NM_020442.6(VARS2):c.142C>G (p.Gln48Glu)	rs750590170	0.00004
NM_020442.6(VARS2):c.2501G>A (p.Arg834His)	rs747564856	0.00004
NM_020442.6(VARS2):c.275A>G (p.Glu92Gly)	rs767695626	0.00002
NM_020442.6(VARS2):c.1400G>A (p.Arg467His)	rs775439829	0.00001
NM_020442.6(VARS2):c.2684G>A (p.Arg895His)	rs570231965	0.00001
NM_020442.6(VARS2):c.631C>T (p.Arg211Trp)	rs544609783	0.00001
NM_020442.6(VARS2):c.842G>A (p.Cys281Tyr)

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