ClinVar Miner

List of variants reported as pathogenic for Primary hyperoxaluria, type III by OMIM

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Total variants: 8
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HGVS dbSNP
NM_138413.4(HOGA1):c.209G>C (p.Arg70Pro) rs267606763
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762
NM_138413.4(HOGA1):c.700+4G>T
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly) rs267606764
NM_138413.4(HOGA1):c.834G>A (p.Ala278=) rs770050262
NM_138413.4(HOGA1):c.834_834+1delinsTT rs1564760008
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val) rs138207257
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) rs397509360

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