ClinVar Miner

List of variants studied for Primary hyperoxaluria, type III by Counsyl

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Total variants: 28
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HGVS dbSNP
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val) rs201803986
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs) rs924232072
NM_138413.4(HOGA1):c.110G>T (p.Gly37Val) rs772722925
NM_138413.4(HOGA1):c.122dup (p.Val42fs) rs1425736036
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer) rs1419840309
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter) rs758304537
NM_138413.4(HOGA1):c.221T>G (p.Val74Gly) rs796052084
NM_138413.4(HOGA1):c.22TCT[1] (p.Ser9del) rs1554872338
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762
NM_138413.4(HOGA1):c.337G>A (p.Glu113Lys) rs150702945
NM_138413.4(HOGA1):c.341-1G>A rs1554874130
NM_138413.4(HOGA1):c.398C>T (p.Ala133Val) rs374367160
NM_138413.4(HOGA1):c.404del (p.Val135fs) rs1554874148
NM_138413.4(HOGA1):c.413del (p.Pro138fs) rs777683624
NM_138413.4(HOGA1):c.448del (p.Leu150fs) rs746776892
NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr) rs777601935
NM_138413.4(HOGA1):c.535C>A (p.Pro179Thr) rs374327791
NM_138413.4(HOGA1):c.634A>G (p.Thr212Ala) rs779492256
NM_138413.4(HOGA1):c.700+2T>G rs990830655
NM_138413.4(HOGA1):c.701-2A>G rs776817346
NM_138413.4(HOGA1):c.713del (p.Gly238fs) rs760930050
NM_138413.4(HOGA1):c.745C>G (p.Gln249Glu) rs368276974
NM_138413.4(HOGA1):c.752G>C (p.Cys251Ser) rs886047518
NM_138413.4(HOGA1):c.796C>T (p.Gln266Ter) rs752277936
NM_138413.4(HOGA1):c.834+1G>A rs749315029
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val) rs138207257
NM_138413.4(HOGA1):c.91AAG[1] (p.Lys32del) rs750736378
NM_138413.4(HOGA1):c.943_954dup (p.Glu315_Arg318dup) rs777828182

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