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rs267606612

From SNPedia

ClinVar
Risk rs267606612(;)
Alt rs267606612(;)
Reference rs267606612(TTTTTCTTCGCAGGA;TTTTTCTTCGCAGGA)
Significance Pathogenic
Disease Cytochrome-c oxidase deficiency Mitochondrial complex IV deficiency with recurrent myoglobinuria
Variation info
Gene COX3
CLNDBN Cytochrome-c oxidase deficiency Mitochondrial complex IV deficiency with recurrent myoglobinuria
Reversed 0
HGVS NC_012920.1:m.9487_9501delTCGCAGGATTTTTCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000010289.2, RCV000010290.4,