ClinVar Miner

List of variants studied for Combined oxidative phosphorylation deficiency

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001083614.2(EARS2):c.*535dup rs11300207 0.15238
NM_003321.4(TUFM):c.-132G>A rs112029765 0.02019
NM_024996.7(GFM1):c.*483_*484insTA rs10662631 0.01750
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_024996.7(GFM1):c.689+908G>A rs751069628 0.00011
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_024996.7(GFM1):c.748C>T (p.Arg250Trp) rs139430866 0.00001
NM_001083614.2(EARS2):c.*1048del rs750087699
NM_001083614.2(EARS2):c.*1902dup rs79556186
NM_001083614.2(EARS2):c.*380_*384del rs3071379
NM_001083614.2(EARS2):c.*383GA[1] rs200036419
NM_001083614.2(EARS2):c.*535del rs11300207
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_020745.4(AARS2):c.*1284del rs35562884
NM_020745.4(AARS2):c.*1635_*1636insAA rs34687863
NM_020745.4(AARS2):c.*555_*556insATAAA rs111990690
NM_020745.4(AARS2):c.*633_*634insGGTATGGGTGCCCT rs112092257
NM_020745.4(AARS2):c.1189-16_1189-14del rs144914586
NM_024996.7(GFM1):c.*454_*456del rs367730845
NM_024996.7(GFM1):c.1384G>T (p.Asp462Tyr) rs200244667
NM_152269.5(MTRFR):c.*14del rs886049040
NM_152269.5(MTRFR):c.*696_*699del rs202152701
NM_152269.5(MTRFR):c.*702CAGT[1] rs886049046
NM_152269.5(MTRFR):c.*711_*713del rs148010033

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