ClinVar Miner

List of variants in gene COX15, ENTPD7 studied for Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency

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Total variants: 26
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HGVS dbSNP
NM_020354.5(ENTPD7):c.*4258A>G rs10490941
NM_020354.5(ENTPD7):c.*4290C>G rs886046594
NM_020354.5(ENTPD7):c.*4292C>T rs201701928
NM_020354.5(ENTPD7):c.*4296T>C rs74152722
NM_020354.5(ENTPD7):c.*4339C>T rs764641759
NM_020354.5(ENTPD7):c.*4513G>A rs138423739
NM_020354.5(ENTPD7):c.*4579G>A rs886046595
NM_020354.5(ENTPD7):c.*4621A>C rs56206689
NM_020354.5(ENTPD7):c.*4914T>C rs76530337
NM_020354.5(ENTPD7):c.*4976C>T rs886046596
NM_020354.5(ENTPD7):c.*5002G>C rs886046597
NM_020354.5(ENTPD7):c.*5070A>G rs73345141
NM_020354.5(ENTPD7):c.*5084T>A rs200422911
NM_020354.5(ENTPD7):c.*5165G>A rs2300983
NM_020354.5(ENTPD7):c.*5401T>C rs769776249
NM_020354.5(ENTPD7):c.*5463T>G rs1056844
NM_020354.5(ENTPD7):c.*5521G>A rs886046598
NM_020354.5(ENTPD7):c.*5645C>A rs1000984
NM_020354.5(ENTPD7):c.*5889A>G rs11190252
NM_020354.5(ENTPD7):c.*5890C>T rs886046599
NM_020354.5(ENTPD7):c.*5989T>C rs188328622
NM_020354.5(ENTPD7):c.*6091A>C rs80332976
NM_020354.5(ENTPD7):c.*6234C>T rs886046600
NM_020354.5(ENTPD7):c.*6425_*6426dup rs11405417
NM_020354.5(ENTPD7):c.*6426dup rs11405417
NM_020354.5(ENTPD7):c.*6487A>G rs10883407

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