ClinVar Miner

List of variants studied for Primary hyperoxaluria by Illumina Clinical Services Laboratory,Illumina

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Total variants: 9
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HGVS dbSNP
NM_000030.2(AGXT):c.-46G>A rs73106672
NM_000030.3(AGXT):c.489G>A (p.Leu163=) rs147601535
NM_138413.4(HOGA1):c.*204T>A rs886047519
NM_138413.4(HOGA1):c.*350dup rs1554875325
NM_138413.4(HOGA1):c.*353_*354dup rs5787248
NM_138413.4(HOGA1):c.*354dup rs5787248
NM_138413.4(HOGA1):c.*359dup rs561998392
NM_138413.4(HOGA1):c.*381_*382AG[1] rs886047523
NM_138413.4(HOGA1):c.701-11_701-8dup rs143018385

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