ClinVar Miner

List of variants in gene AGXT reported as likely pathogenic for Primary hyperoxaluria, type I

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Total variants: 38
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HGVS dbSNP
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys) rs180177157
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln) rs180177161
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) rs180177166
NM_000030.3(AGXT):c.122G>T (p.Gly41Val) rs180177168
NM_000030.3(AGXT):c.126dup (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter) rs180177172
NM_000030.3(AGXT):c.221_227dup (p.Val77fs) rs180177183
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu) rs121908522
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg) rs180177197
NM_000030.3(AGXT):c.33del (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) rs180177207
NM_000030.3(AGXT):c.423+1G>A rs1553648493
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu) rs180177225
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys) rs180177227
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.3(AGXT):c.524+2T>A rs1553648568
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr) rs180177235
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe) rs180177238
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg) rs180177239
NM_000030.3(AGXT):c.577del (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu) rs180177253
NM_000030.3(AGXT):c.673_676del (p.Lys225fs) rs1057516896
NM_000030.3(AGXT):c.681-1G>T rs112673831
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526
NM_000030.3(AGXT):c.698G>A (p.Arg233His) rs121908527
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter) rs180177259
NM_000030.3(AGXT):c.752G>A (p.Trp251Ter) rs786204545
NM_000030.3(AGXT):c.776+2T>G rs1553649007
NM_000030.3(AGXT):c.777-1G>C rs180177267
NM_000030.3(AGXT):c.847-1G>C rs180177285
NM_000030.3(AGXT):c.847-2_847-1del rs1553649375
NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter) rs180177292
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter) rs180177294
NM_000030.3(AGXT):c.943-1G>T rs180177298
NM_000030.3(AGXT):c.976del (p.Val326fs) rs180177301
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter) rs796052064

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