ClinVar Miner

List of variants in gene IVD reported as likely benign for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 108
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HGVS dbSNP
NM_002225.3(IVD):c.-79C>G rs574064968
NM_002225.5(IVD):c.*1376G>A
NM_002225.5(IVD):c.*2235G>A
NM_002225.5(IVD):c.*2559G>A rs532233403
NM_002225.5(IVD):c.*2850A>G rs147367220
NM_002225.5(IVD):c.*387del rs145781896
NM_002225.5(IVD):c.-48G>A rs114259808
NM_002225.5(IVD):c.1005G>A (p.Ala335=) rs570369496
NM_002225.5(IVD):c.1005G>C (p.Ala335=) rs570369496
NM_002225.5(IVD):c.1023C>T (p.Tyr341=)
NM_002225.5(IVD):c.1026T>C (p.Asn342=)
NM_002225.5(IVD):c.1029C>T (p.Val343=)
NM_002225.5(IVD):c.102C>G (p.Pro34=)
NM_002225.5(IVD):c.1041C>T (p.Cys347=)
NM_002225.5(IVD):c.1059T>C (p.Thr353=)
NM_002225.5(IVD):c.1066-10C>T rs774472099
NM_002225.5(IVD):c.1095T>C (p.Ala365=) rs1595790601
NM_002225.5(IVD):c.111T>C (p.Asp37=)
NM_002225.5(IVD):c.1122C>T (p.Asp374=) rs372504234
NM_002225.5(IVD):c.1138+9T>G
NM_002225.5(IVD):c.1139-8G>C rs755640305
NM_002225.5(IVD):c.1139-9T>C
NM_002225.5(IVD):c.11C>T (p.Ala4Val) rs148189323
NM_002225.5(IVD):c.1215G>A (p.Gly405=)
NM_002225.5(IVD):c.123G>C (p.Gly41=) rs139179135
NM_002225.5(IVD):c.1242C>T (p.Ile414=)
NM_002225.5(IVD):c.144+10C>G
NM_002225.5(IVD):c.144+7A>C rs1595750832
NM_002225.5(IVD):c.144+8G>A rs1248918125
NM_002225.5(IVD):c.150T>A (p.Arg50=) rs762440985
NM_002225.5(IVD):c.156C>G (p.Thr52=)
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491
NM_002225.5(IVD):c.174G>A (p.Gln58=)
NM_002225.5(IVD):c.195C>T (p.Ala65=)
NM_002225.5(IVD):c.219G>A (p.Glu73=)
NM_002225.5(IVD):c.225G>A (p.Lys75=)
NM_002225.5(IVD):c.228C>T (p.Asn76=) rs140098686
NM_002225.5(IVD):c.22C>T (p.Leu8=) rs773816252
NM_002225.5(IVD):c.234+10del
NM_002225.5(IVD):c.234+17G>A rs568900608
NM_002225.5(IVD):c.234+9G>A rs369931477
NM_002225.5(IVD):c.235-8G>A
NM_002225.5(IVD):c.252G>A (p.Leu84=)
NM_002225.5(IVD):c.264C>A (p.Gly88=)
NM_002225.5(IVD):c.264C>T (p.Gly88=) rs377199313
NM_002225.5(IVD):c.286+8T>C rs769702849
NM_002225.5(IVD):c.294T>C (p.Tyr98=)
NM_002225.5(IVD):c.297C>T (p.Gly99=)
NM_002225.5(IVD):c.303C>T (p.Ser101=) rs749482459
NM_002225.5(IVD):c.306C>A (p.Gly102=)
NM_002225.5(IVD):c.321G>A (p.Glu107=)
NM_002225.5(IVD):c.330G>A (p.Leu110=)
NM_002225.5(IVD):c.33T>C (p.Arg11=)
NM_002225.5(IVD):c.357C>T (p.Ser119=)
NM_002225.5(IVD):c.360A>G (p.Gly120=)
NM_002225.5(IVD):c.372C>T (p.Leu124=)
NM_002225.5(IVD):c.378C>T (p.Tyr126=)
NM_002225.5(IVD):c.381T>C (p.Gly127=)
NM_002225.5(IVD):c.384C>A (p.Ala128=)
NM_002225.5(IVD):c.438A>G (p.Lys146=) rs1007239169
NM_002225.5(IVD):c.453G>A (p.Pro151=)
NM_002225.5(IVD):c.457-4G>A
NM_002225.5(IVD):c.457-7C>T
NM_002225.5(IVD):c.457-9T>C rs1418302146
NM_002225.5(IVD):c.459G>C (p.Leu153=)
NM_002225.5(IVD):c.474C>T (p.Tyr158=)
NM_002225.5(IVD):c.477C>T (p.Ile159=)
NM_002225.5(IVD):c.483C>T (p.Ala161=)
NM_002225.5(IVD):c.486G>A (p.Leu162=)
NM_002225.5(IVD):c.504T>C (p.Asn168=)
NM_002225.5(IVD):c.513T>C (p.Ser171=)
NM_002225.5(IVD):c.534C>A (p.Leu178=) rs775318094
NM_002225.5(IVD):c.540G>A (p.Ala180=) rs775944806
NM_002225.5(IVD):c.550+10C>T
NM_002225.5(IVD):c.576C>T (p.Asn192=)
NM_002225.5(IVD):c.588C>T (p.Ile196=)
NM_002225.5(IVD):c.609C>T (p.Asp203=)
NM_002225.5(IVD):c.639G>C (p.Leu213=)
NM_002225.5(IVD):c.642T>G (p.Ala214=)
NM_002225.5(IVD):c.666C>T (p.Ile222=)
NM_002225.5(IVD):c.687+7_687+16del
NM_002225.5(IVD):c.690T>C (p.Gly230=) rs1182189552
NM_002225.5(IVD):c.720G>A (p.Leu240=)
NM_002225.5(IVD):c.72C>T (p.Phe24=) rs1403443551
NM_002225.5(IVD):c.750C>T (p.Thr250=)
NM_002225.5(IVD):c.816T>C (p.Gly272=)
NM_002225.5(IVD):c.81G>A (p.Gln27=)
NM_002225.5(IVD):c.822C>T (p.Tyr274=) rs375580399
NM_002225.5(IVD):c.837G>A (p.Gly279=) rs754853734
NM_002225.5(IVD):c.840G>A (p.Leu280=)
NM_002225.5(IVD):c.864C>T (p.Ala288=) rs1566939786
NM_002225.5(IVD):c.870G>A (p.Gly290=)
NM_002225.5(IVD):c.879-5G>A rs750569823
NM_002225.5(IVD):c.87C>G (p.Ala29=)
NM_002225.5(IVD):c.87C>T (p.Ala29=) rs751297903
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412
NM_002225.5(IVD):c.891G>T (p.Ala297=)
NM_002225.5(IVD):c.903C>T (p.His301=) rs759116078
NM_002225.5(IVD):c.912C>T (p.Pro304=)
NM_002225.5(IVD):c.916C>G (p.Leu306Val) rs144418134
NM_002225.5(IVD):c.921C>T (p.His307=)
NM_002225.5(IVD):c.930A>G (p.Glu310=)
NM_002225.5(IVD):c.948C>T (p.Ile316=) rs754100750
NM_002225.5(IVD):c.954C>T (p.His318=)
NM_002225.5(IVD):c.957C>T (p.Phe319=)
NM_002225.5(IVD):c.960+7C>T
NM_002225.5(IVD):c.960+8G>A
NM_002225.5(IVD):c.961-6G>A rs199783007

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