ClinVar Miner

List of variants reported as pathogenic for 3-methylglutaconic aciduria, type VIII by OMIM

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Total variants: 4
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NM_013247.4(HTRA2):c.906+1G>C rs1057519081
NM_032603.5(LOXL3):c.*682_*686del rs1057519080
NM_032603.5(LOXL3):c.*892C>T rs767006508
NM_145074.2(HTRA2):c.711+106_711+108delinsCAT rs1057519082

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