List of variants reported as pathogenic for Primary hyperoxaluria, type I by Revvity Omics, Revvity

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Total variants: 14

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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.121G>A (p.Gly41Arg)	rs121908523	0.00004
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg)	rs180177239	0.00003
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)	rs121908525	0.00003
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)	rs180177195	0.00001
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter)	rs180177210	0.00001
NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter)	rs121908521
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)	rs180177197
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)	rs34116584
NM_000030.3(AGXT):c.331C>T (p.Arg111Ter)	rs180177202
NM_000030.3(AGXT):c.33dup (p.Lys12fs)	rs180177201
NM_000030.3(AGXT):c.447_454del (p.Leu151fs)	rs180177221
NM_000030.3(AGXT):c.971_972del (p.Val324fs)	rs180177300
NM_000030.3(AGXT):c.997A>T (p.Arg333Ter)	rs180177303

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