ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 151
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp) rs774030578 0.00011
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143 0.00007
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn) rs180177180 0.00006
NM_000030.3(AGXT):c.353G>A (p.Arg118His) rs138025751 0.00005
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526 0.00005
NM_000030.3(AGXT):c.698G>A (p.Arg233His) rs121908527 0.00005
NM_000030.3(AGXT):c.484G>A (p.Val162Met) rs147497484 0.00004
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro) rs121908520 0.00004
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys) rs180177227 0.00003
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg) rs180177239 0.00003
NM_000030.3(AGXT):c.847-3C>G rs180177286 0.00003
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys) rs180177157 0.00002
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu) rs121908522 0.00002
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) rs180177207 0.00002
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe) rs180177238 0.00002
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu) rs180177253 0.00002
NM_000030.3(AGXT):c.1078C>T (p.Arg360Trp) rs758493460 0.00001
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln) rs180177161 0.00001
NM_000030.3(AGXT):c.107G>A (p.Arg36His) rs180177162 0.00001
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser) rs569643246 0.00001
NM_000030.3(AGXT):c.1151T>C (p.Leu384Pro) rs180177165 0.00001
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) rs180177166 0.00001
NM_000030.3(AGXT):c.122G>T (p.Gly41Val) rs180177168 0.00001
NM_000030.3(AGXT):c.215A>T (p.Asn72Ile) rs113879010 0.00001
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu) rs180177184 0.00001
NM_000030.3(AGXT):c.2T>C (p.Met1Thr) rs138584408 0.00001
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195 0.00001
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln) rs180177203 0.00001
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn) rs886055840 0.00001
NM_000030.3(AGXT):c.752G>A (p.Trp251Ter) rs786204545 0.00001
NM_000030.3(AGXT):c.757T>C (p.Cys253Arg) rs180177264 0.00001
NM_000030.3(AGXT):c.777-1G>C rs180177267 0.00001
NM_000030.3(AGXT):c.779A>G (p.Tyr260Cys) rs1430414907 0.00001
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter) rs180177294 0.00001
NM_000030.3(AGXT):c.942+1G>A rs180177297 0.00001
NM_000030.3(AGXT):c.1007T>A (p.Val336Asp) rs180177155
NM_000030.3(AGXT):c.1014C>A (p.Tyr338Ter) rs756437332
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000030.3(AGXT):c.1072-1G>A rs2528766258
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro) rs180177160
NM_000030.3(AGXT):c.1093_1094del (p.Gly365fs) rs2528766345
NM_000030.3(AGXT):c.1161C>A (p.Cys387Ter) rs2528766716
NM_000030.3(AGXT):c.121G>C (p.Gly41Arg) rs121908523
NM_000030.3(AGXT):c.121G>T (p.Gly41Trp)
NM_000030.3(AGXT):c.126del (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.126dup (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter) rs180177172
NM_000030.3(AGXT):c.139G>C (p.Gly47Arg) rs180177173
NM_000030.3(AGXT):c.140G>A (p.Gly47Glu) rs1171762321
NM_000030.3(AGXT):c.166-11_166-8delinsTGCATGCAAGAT rs2528739914
NM_000030.3(AGXT):c.188G>A (p.Gly63Asp) rs760666036
NM_000030.3(AGXT):c.190A>T (p.Ile64Phe) rs2528739981
NM_000030.3(AGXT):c.191T>A (p.Ile64Asn) rs2528739984
NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter) rs121908521
NM_000030.3(AGXT):c.221_227dup (p.Val77fs) rs180177183
NM_000030.3(AGXT):c.238_239insTTGCCAA (p.Gly80fs) rs1559567942
NM_000030.3(AGXT):c.239_251del (p.Gly80fs) rs2528740086
NM_000030.3(AGXT):c.23_24delinsAT (p.Val8Asp) rs2528738855
NM_000030.3(AGXT):c.242C>G (p.Ser81Trp) rs180177184
NM_000030.3(AGXT):c.244G>A (p.Gly82Arg) rs180177185
NM_000030.3(AGXT):c.252T>A (p.Cys84Ter) rs2058978388
NM_000030.3(AGXT):c.252_253del (p.Ala85fs) rs2058978377
NM_000030.3(AGXT):c.259del (p.Glu87fs) rs2528740212
NM_000030.3(AGXT):c.268dup (p.Leu90fs) rs2528740235
NM_000030.3(AGXT):c.279del (p.Leu94fs) rs2528740277
NM_000030.3(AGXT):c.283G>T (p.Glu95Ter) rs180177189
NM_000030.3(AGXT):c.292G>C (p.Asp98His) rs2528740306
NM_000030.3(AGXT):c.299_307dup (p.Val102_Gly103insValLeuVal) rs180177193
NM_000030.3(AGXT):c.305T>A (p.Val102Asp) rs1304689724
NM_000030.3(AGXT):c.31_32insT (p.Pro11fs) rs2106427288
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg) rs180177197
NM_000030.3(AGXT):c.324G>T (p.Trp108Cys) rs796052060
NM_000030.3(AGXT):c.326G>A (p.Gly109Glu) rs180177199
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.335C>A (p.Ala112Asp) rs796052061
NM_000030.3(AGXT):c.33del (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.34_35dup (p.Ala13fs) rs2528738955
NM_000030.3(AGXT):c.352C>A (p.Arg118Ser) rs376844297
NM_000030.3(AGXT):c.358G>A (p.Gly120Arg) rs747043550
NM_000030.3(AGXT):c.358G>T (p.Gly120Ter) rs747043550
NM_000030.3(AGXT):c.359-2A>G rs1451241481
NM_000030.3(AGXT):c.374_381del (p.Pro125fs) rs2058986184
NM_000030.3(AGXT):c.386_395del (p.Asp129fs) rs2528742910
NM_000030.3(AGXT):c.389del (p.Pro130fs) rs2528742931
NM_000030.3(AGXT):c.412G>T (p.Glu138Ter) rs2058986411
NM_000030.3(AGXT):c.423+1G>A rs1553648493
NM_000030.3(AGXT):c.423+2T>C rs112910630
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp) rs180177217
NM_000030.3(AGXT):c.433del (p.Gln145fs) rs2528744408
NM_000030.3(AGXT):c.439A>T (p.Lys147Ter) rs1193344118
NM_000030.3(AGXT):c.466G>T (p.Gly156Trp)
NM_000030.3(AGXT):c.469G>C (p.Glu157Gln) rs1359760798
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu) rs180177225
NM_000030.3(AGXT):c.482G>A (p.Gly161Asp) rs1559568801
NM_000030.3(AGXT):c.490C>T (p.Gln164Ter) rs2528744859
NM_000030.3(AGXT):c.517T>C (p.Cys173Arg) rs2106428650
NM_000030.3(AGXT):c.519_520delinsGA (p.Cys173_His174delinsTrpAsn) rs180177233
NM_000030.3(AGXT):c.524+2T>A rs1553648568
NM_000030.3(AGXT):c.525-2A>T rs1452455390
NM_000030.3(AGXT):c.528C>A (p.Tyr176Ter) rs2106429448
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr) rs180177235
NM_000030.3(AGXT):c.534C>G (p.Cys178Trp) rs1400552764
NM_000030.3(AGXT):c.536delinsACTGGAGG (p.Leu179fs) rs2528749663
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn) rs180177236
NM_000030.3(AGXT):c.560C>A (p.Ser187Tyr) rs180177238
NM_000030.3(AGXT):c.569_570dup (p.Thr191fs)
NM_000030.3(AGXT):c.569_570insA (p.Thr191fs) rs1179823296
NM_000030.3(AGXT):c.577del (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.579_580del (p.Tyr194fs) rs2528749898
NM_000030.3(AGXT):c.584T>G (p.Met195Arg) rs180177244
NM_000030.3(AGXT):c.595+1G>A rs1172393548
NM_000030.3(AGXT):c.595+2T>C
NM_000030.3(AGXT):c.597_601del (p.Ile200fs) rs1468909944
NM_000030.3(AGXT):c.602A>T (p.Asp201Val) rs1575709864
NM_000030.3(AGXT):c.627G>T (p.Lys209Asn) rs1242267009
NM_000030.3(AGXT):c.632T>G (p.Leu211Arg) rs2528753217
NM_000030.3(AGXT):c.638C>A (p.Ala213Asp) rs569680503
NM_000030.3(AGXT):c.638C>T (p.Ala213Val)
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg) rs180177252
NM_000030.3(AGXT):c.653C>A (p.Ser218Ter) rs180177253
NM_000030.3(AGXT):c.662_664del (p.Ser221del) rs796052071
NM_000030.3(AGXT):c.667A>C (p.Ser223Arg) rs2528753327
NM_000030.3(AGXT):c.673_676del (p.Lys225fs) rs1057516896
NM_000030.3(AGXT):c.680+1G>C rs111996685
NM_000030.3(AGXT):c.681-1G>A rs112673831
NM_000030.3(AGXT):c.681-1G>T rs112673831
NM_000030.3(AGXT):c.683AGA[1] (p.Lys229del) rs1553648979
NM_000030.3(AGXT):c.706A>T (p.Lys236Ter) rs2528755991
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter) rs180177259
NM_000030.3(AGXT):c.751_752delinsAA (p.Trp251Lys) rs796052072
NM_000030.3(AGXT):c.776+2T>G rs1553649007
NM_000030.3(AGXT):c.777-2A>G rs796052068
NM_000030.3(AGXT):c.781C>G (p.His261Asp) rs778567956
NM_000030.3(AGXT):c.79G>T (p.Gly27Trp) rs2528739107
NM_000030.3(AGXT):c.807dup (p.Tyr270fs) rs2528758339
NM_000030.3(AGXT):c.824G>A (p.Ser275Asn) rs767607960
NM_000030.3(AGXT):c.825C>A (p.Ser275Arg)
NM_000030.3(AGXT):c.826_827delinsGA (p.Leu276Glu) rs2528758393
NM_000030.3(AGXT):c.838del (p.Ala280fs) rs2106430924
NM_000030.3(AGXT):c.847-1G>C rs180177285
NM_000030.3(AGXT):c.847-2_847-1del rs1553649375
NM_000030.3(AGXT):c.848del rs1215010372
NM_000030.3(AGXT):c.872A>C (p.His291Pro)
NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter) rs180177292
NM_000030.3(AGXT):c.934A>T (p.Lys312Ter) rs2528762537
NM_000030.3(AGXT):c.943-1G>T rs180177298
NM_000030.3(AGXT):c.973del (p.Ala325fs) rs2059037657
NM_000030.3(AGXT):c.976del (p.Val326fs) rs180177301
NM_000030.3(AGXT):c.983_988del (p.Ala328_Tyr330delinsAsp) rs180177302
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter) rs796052064

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.