ClinVar Miner

List of variants reported as benign for Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency

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Total variants: 22
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HGVS dbSNP
NM_001169109.1(SCO2):c.-14+710G>C rs131806
NM_001169109.1(SCO2):c.-14+770G>A rs74479613
NM_001257988.1(TYMP):c.1284T>A (p.Gly428=) rs1138404
NM_001257988.1(TYMP):c.972C>T (p.Ala324=) rs131804
NM_001303.3(COX10):c.-112G>A rs6502330
NM_001303.4(COX10):c.*1076T>C rs1050216
NM_001303.4(COX10):c.*151_*152del rs200239586
NM_001303.4(COX10):c.*322T>C rs11078233
NM_001303.4(COX10):c.*371A>G rs11078234
NM_001303.4(COX10):c.*646C>A rs7214082
NM_001303.4(COX10):c.*757T>C rs1802618
NM_001303.4(COX10):c.*831_*832CT[1] rs397763766
NM_001303.4(COX10):c.476G>A (p.Arg159Gln) rs2072279
NM_001303.4(COX10):c.504G>A (p.Leu168=) rs2159132
NM_001303.4(COX10):c.699A>G (p.Pro233=) rs2230354
NM_004376.6(COX15):c.*1570+742dup rs11405417
NM_004376.6(COX15):c.1120T>C (p.Phe374Leu) rs2231687
NM_004589.4(SCO1):c.*320= rs2040570
NM_004589.4(SCO1):c.*722C>G rs7512
NM_020354.5(ENTPD7):c.*5165G>A rs2300983
NM_152299.4(NCAPH2):c.*404T>G rs12148
NM_152299.4(NCAPH2):c.*978C>G rs140523

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