ClinVar Miner

List of variants in gene SCO2, TYMP studied for Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency

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Total variants: 16
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HGVS dbSNP
NM_001169109.1(SCO2):c.-14+479C>T rs372620403
NM_001169109.1(SCO2):c.-14+486G>A rs369012029
NM_001169109.1(SCO2):c.-14+653_-14+656dup rs143413019
NM_001169109.1(SCO2):c.-14+710G>C rs131806
NM_001169109.1(SCO2):c.-14+770G>A rs74479613
NM_001257988.1(TYMP):c.1028T>G (p.Phe343Cys) rs762630777
NM_001257988.1(TYMP):c.1044G>A (p.Ala348=) rs886057633
NM_001257988.1(TYMP):c.1137G>A (p.Glu379=) rs764142194
NM_001257988.1(TYMP):c.1147G>A (p.Ala383Thr) rs771700483
NM_001257988.1(TYMP):c.1176C>T (p.Val392=) rs770533125
NM_001257988.1(TYMP):c.1284T>A (p.Gly428=) rs1138404
NM_001257988.1(TYMP):c.1443G>A (p.Gln481=) rs377497287
NM_001257988.1(TYMP):c.831G>A (p.Leu277=) rs8141558
NM_001257988.1(TYMP):c.972C>T (p.Ala324=) rs131804
NM_001257988.1(TYMP):c.995C>T (p.Ala332Val) rs778306525
NM_001953.4(TYMP):c.929-6_929-3del rs201685922

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