List of variants reported as uncertain significance for Combined oxidative phosphorylation deficiency

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Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_001083614.2(EARS2):c.*535dup	rs11300207	0.15238
NM_003321.4(TUFM):c.-128G>C	rs555362028	0.00129
NM_020745.4(AARS2):c.1534G>C (p.Asp512His)	rs146512155	0.00073
NM_003321.4(TUFM):c.-81G>C	rs573249163	0.00048
NM_020745.4(AARS2):c.*1473del	rs766302064	0.00016
NM_001083614.2(EARS2):c.558G>A (p.Ala186=)	rs374363396	0.00010
NM_003321.5(TUFM):c.1195-3T>C	rs376169369	0.00009
NM_020191.4(MRPS22):c.799T>C (p.Tyr267His)	rs762299963	0.00008
NM_016065.3(MRPS16):c.-183A>G	rs886047203	0.00001
NM_001083614.2(EARS2):c.*1048del	rs750087699
NM_001083614.2(EARS2):c.*1902dup	rs79556186
NM_003321.5(TUFM):c.-57TCT[2]	rs147419027
NM_005726.6(TSFM):c.233C>T (p.Ala78Val)	rs886049729
NM_016065.4(MRPS16):c.1291_1293del	rs767465725
NM_016065.4(MRPS16):c.*1503A>G	rs2018198
NM_016065.4(MRPS16):c.*450del	rs886047196
NM_016065.4(MRPS16):c.*633dup	rs555061429
NM_016065.4(MRPS16):c.854_856del	rs886047188
NM_016065.4(MRPS16):c.-120_-118del	rs574159820
NM_016065.4(MRPS16):c.-85GT[1]	rs886047201
NM_016065.4(MRPS16):c.275-5T>G	rs763591161
NM_020191.4(MRPS22):c.648+19del	rs773240427
NM_020191.4(MRPS22):c.987+15del	rs372892045
NM_020745.4(AARS2):c.*1112dup	rs112521684
NM_020745.4(AARS2):c.1284_1287del	rs201274623
NM_024996.7(GFM1):c.1384G>T (p.Asp462Tyr)	rs200244667
NM_152269.5(MTRFR):c.*14del	rs886049040
NM_152269.5(MTRFR):c.*702CAGT[1]	rs886049046

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