ClinVar Miner

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

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Total variants: 33
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HGVS dbSNP
NC_012920.1:m.3243A>G rs199474657
NM_001040431.2(COA3):c.199dupC (p.Leu67Profs) rs757472611
NM_001040431.2(COA3):c.215A>G (p.Tyr72Cys) rs139877390
NM_001136194.1(FASTKD2):c.1294C>T (p.Arg432Ter) rs118203917
NM_001171155.1(PET100):c.142C>T (p.Gln48Ter) rs587779779
NM_001171155.1(PET100):c.3G>C (p.Met1Ile) rs587777839
NM_001257133.1(COX14):c.57G>A (p.Met19Ile) rs587776904
NM_001303.3(COX10):c.587C>A (p.Thr196Lys) rs104894555
NM_001303.3(COX10):c.612C>A (p.Asn204Lys) rs104894560
NM_001303.3(COX10):c.674C>T (p.Pro225Leu) rs104894556
NM_001312871.1(COX20):c.154A>C (p.Thr52Pro) rs587777004
NM_001863.5(COX6B1):c.58C>T (p.Arg20Cys) rs778740017
NM_001863.5(COX6B1):c.59G>A (p.Arg20His) rs121909602
NM_004074.2(COX8A):c.115-1G>C rs869025575
NM_004589.3(SCO1):c.363_364del (p.Lys122Valfs) rs587776629
NM_004589.3(SCO1):c.394G>A (p.Gly132Ser) rs587777220
NM_004589.3(SCO1):c.521C>T (p.Pro174Leu) rs104894630
NM_032374.4(COA8):c.163-1G>A rs587777785
NM_032374.4(COA8):c.353T>C (p.Phe118Ser) rs587777786
NM_032374.4(COA8):c.370_372del (p.Glu124del) rs587777787
NR_126431.1(COA8):n.406C>T rs587777784
SURF1, 2-BP DEL, 790AG
m.5728T>C rs199476132
m.6480G>A rs199476128
m.6930G>A rs28679680
m.7587T>C rs199474825
m.7671T>A rs199474827
m.7896G>A rs199474829
m.8042_8043delAT rs199474828
m.9379G>A rs267606615
m.9487_9501delTCGCAGGATTTTTCT rs267606612
m.9537dupC rs267606614
m.9952G>A rs267606613

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