ClinVar Miner

List of variants studied for Primary hyperoxaluria, type I by Myriad Genetics, Inc.

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143 0.00007
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525 0.00006
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526 0.00005
NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter) rs121908521
NM_000030.3(AGXT):c.239_251del (p.Gly80fs)
NM_000030.3(AGXT):c.252T>A (p.Cys84Ter) rs2058978388
NM_000030.3(AGXT):c.259del (p.Glu87fs)
NM_000030.3(AGXT):c.279del (p.Leu94fs)
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.358G>T (p.Gly120Ter) rs747043550
NM_000030.3(AGXT):c.374_381del (p.Pro125fs) rs2058986184
NM_000030.3(AGXT):c.412G>T (p.Glu138Ter) rs2058986411
NM_000030.3(AGXT):c.439A>T (p.Lys147Ter) rs1193344118
NM_000030.3(AGXT):c.528C>A (p.Tyr176Ter)
NM_000030.3(AGXT):c.536delinsACTGGAGG (p.Leu179fs)
NM_000030.3(AGXT):c.579_580del (p.Tyr194fs)
NM_000030.3(AGXT):c.653C>A (p.Ser218Ter) rs180177253
NM_000030.3(AGXT):c.706A>T (p.Lys236Ter)
NM_000030.3(AGXT):c.934A>T (p.Lys312Ter)

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