ClinVar Miner

List of variants in gene PCCB 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: 152
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HGVS dbSNP
NM_000532.5(PCCB):c.1002C>A (p.Pro334=)
NM_000532.5(PCCB):c.1008T>C (p.Tyr336=)
NM_000532.5(PCCB):c.1020C>T (p.Ile340=)
NM_000532.5(PCCB):c.1090+7T>C
NM_000532.5(PCCB):c.1091-6T>C
NM_000532.5(PCCB):c.1096T>C (p.Leu366=)
NM_000532.5(PCCB):c.1104T>C (p.Ile368=)
NM_000532.5(PCCB):c.1107T>C (p.Asn369=)
NM_000532.5(PCCB):c.1146T>C (p.Asp382=)
NM_000532.5(PCCB):c.1149A>T (p.Ala383=)
NM_000532.5(PCCB):c.1194A>G (p.Leu398=)
NM_000532.5(PCCB):c.1199-4C>T rs1361484856
NM_000532.5(PCCB):c.1199-8A>G rs886058019
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=) rs191375566
NM_000532.5(PCCB):c.1228C>A (p.Arg410=) rs121964959
NM_000532.5(PCCB):c.1242G>A (p.Lys414=)
NM_000532.5(PCCB):c.1251C>T (p.Tyr417=)
NM_000532.5(PCCB):c.1287C>G (p.Val429=)
NM_000532.5(PCCB):c.1293C>T (p.Thr431=)
NM_000532.5(PCCB):c.1299+9C>A rs60968242
NM_000532.5(PCCB):c.12A>G (p.Ala4=)
NM_000532.5(PCCB):c.1317T>C (p.Tyr439=) rs199541514
NM_000532.5(PCCB):c.1338C>T (p.His446=)
NM_000532.5(PCCB):c.1350T>C (p.Asp450=)
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile) rs145135400
NM_000532.5(PCCB):c.135C>A (p.Thr45=)
NM_000532.5(PCCB):c.1371C>T (p.Thr457=) rs140630332
NM_000532.5(PCCB):c.1383A>C (p.Ala461=)
NM_000532.5(PCCB):c.138G>A (p.Ala46=)
NM_000532.5(PCCB):c.138G>C (p.Ala46=) rs145075817
NM_000532.5(PCCB):c.1398+9C>T
NM_000532.5(PCCB):c.1399-10C>T
NM_000532.5(PCCB):c.1399-5C>T
NM_000532.5(PCCB):c.1401C>T (p.Gly467=) rs142915585
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302
NM_000532.5(PCCB):c.142C>T (p.Leu48=) rs376983709
NM_000532.5(PCCB):c.144G>C (p.Leu48=)
NM_000532.5(PCCB):c.1452A>G (p.Ala484=) rs781556055
NM_000532.5(PCCB):c.1473C>T (p.Ala491=)
NM_000532.5(PCCB):c.1485T>G (p.Pro495=) rs151094095
NM_000532.5(PCCB):c.1498+10T>C
NM_000532.5(PCCB):c.1498+8A>G
NM_000532.5(PCCB):c.1515C>T (p.Ile505=)
NM_000532.5(PCCB):c.1539C>G (p.Ala513=)
NM_000532.5(PCCB):c.1539C>T (p.Ala513=)
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln) rs577625696
NM_000532.5(PCCB):c.1542A>C (p.Arg514=)
NM_000532.5(PCCB):c.1564T>C (p.Leu522=)
NM_000532.5(PCCB):c.1614A>G (p.Pro538=)
NM_000532.5(PCCB):c.174G>A (p.Gln58=) rs1576397701
NM_000532.5(PCCB):c.180G>A (p.Lys60=) rs140636870
NM_000532.5(PCCB):c.183+7C>G rs1039491317
NM_000532.5(PCCB):c.183+9T>C
NM_000532.5(PCCB):c.184-7A>T
NM_000532.5(PCCB):c.184-9C>T
NM_000532.5(PCCB):c.18G>C (p.Arg6=)
NM_000532.5(PCCB):c.18G>T (p.Arg6=)
NM_000532.5(PCCB):c.216C>T (p.Leu72=)
NM_000532.5(PCCB):c.217T>C (p.Leu73=)
NM_000532.5(PCCB):c.21G>A (p.Val7=)
NM_000532.5(PCCB):c.246C>T (p.Ser82=)
NM_000532.5(PCCB):c.24G>T (p.Ala8=) rs1057523611
NM_000532.5(PCCB):c.27G>A (p.Ala9=)
NM_000532.5(PCCB):c.297G>A (p.Lys99=)
NM_000532.5(PCCB):c.303+7G>A
NM_000532.5(PCCB):c.303+8T>A rs199769617
NM_000532.5(PCCB):c.304-4G>T
NM_000532.5(PCCB):c.304-5G>C
NM_000532.5(PCCB):c.30C>A (p.Val10=)
NM_000532.5(PCCB):c.30C>T (p.Val10=)
NM_000532.5(PCCB):c.318C>T (p.Ser106=) rs767388070
NM_000532.5(PCCB):c.321G>C (p.Val107=)
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328
NM_000532.5(PCCB):c.360T>C (p.Tyr120=)
NM_000532.5(PCCB):c.373-1271del rs1553774493
NM_000532.5(PCCB):c.373-1281G>A rs1553774486
NM_000532.5(PCCB):c.373-1297_373-1295del rs1553774476
NM_000532.5(PCCB):c.384T>G (p.Val128=)
NM_000532.5(PCCB):c.387T>C (p.Phe129=)
NM_000532.5(PCCB):c.414C>G (p.Ala138=)
NM_000532.5(PCCB):c.414C>T (p.Ala138=)
NM_000532.5(PCCB):c.429+7G>A rs201986472
NM_000532.5(PCCB):c.429+8T>C
NM_000532.5(PCCB):c.42C>T (p.Leu14=)
NM_000532.5(PCCB):c.450G>A (p.Thr150=)
NM_000532.5(PCCB):c.459T>A (p.Ala153=)
NM_000532.5(PCCB):c.45C>T (p.Ser15=) rs754664563
NM_000532.5(PCCB):c.474G>A (p.Leu158=)
NM_000532.5(PCCB):c.480C>T (p.Asp160=)
NM_000532.5(PCCB):c.483T>G (p.Ser161=) rs751200837
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747
NM_000532.5(PCCB):c.49C>T (p.Leu17=)
NM_000532.5(PCCB):c.507A>C (p.Gly169=)
NM_000532.5(PCCB):c.510G>A (p.Val170=)
NM_000532.5(PCCB):c.544-10G>A
NM_000532.5(PCCB):c.544-4G>A
NM_000532.5(PCCB):c.544-5G>C rs372351800
NM_000532.5(PCCB):c.555G>A (p.Thr185=) rs543691110
NM_000532.5(PCCB):c.561C>T (p.Ser187=) rs145057852
NM_000532.5(PCCB):c.594C>G (p.Gly198=)
NM_000532.5(PCCB):c.597A>C (p.Pro199=)
NM_000532.5(PCCB):c.603T>C (p.Ala201=) rs141340198
NM_000532.5(PCCB):c.612C>T (p.Ala204=)
NM_000532.5(PCCB):c.627C>T (p.Ala209=)
NM_000532.5(PCCB):c.630A>C (p.Leu210=)
NM_000532.5(PCCB):c.630A>G (p.Leu210=) rs1269554950
NM_000532.5(PCCB):c.642G>A (p.Thr214=)
NM_000532.5(PCCB):c.642G>T (p.Thr214=)
NM_000532.5(PCCB):c.645C>T (p.Phe215=)
NM_000532.5(PCCB):c.654+3A>C rs199886085
NM_000532.5(PCCB):c.660C>T (p.Thr220=)
NM_000532.5(PCCB):c.663C>T (p.Ser221=)
NM_000532.5(PCCB):c.667C>T (p.Leu223=)
NM_000532.5(PCCB):c.66C>G (p.Arg22=) rs759836996
NM_000532.5(PCCB):c.6G>A (p.Ala2=)
NM_000532.5(PCCB):c.723G>A (p.Gln241=) rs751695055
NM_000532.5(PCCB):c.72G>T (p.Ala24=)
NM_000532.5(PCCB):c.732C>T (p.Leu244=)
NM_000532.5(PCCB):c.741C>T (p.Ala247=) rs191115697
NM_000532.5(PCCB):c.747C>T (p.Thr249=) rs746448544
NM_000532.5(PCCB):c.75C>T (p.Val25=)
NM_000532.5(PCCB):c.763+8G>A
NM_000532.5(PCCB):c.763+8G>C
NM_000532.5(PCCB):c.764-10G>C
NM_000532.5(PCCB):c.764-5C>A
NM_000532.5(PCCB):c.774C>G (p.His258Gln) rs141615209
NM_000532.5(PCCB):c.774C>T (p.His258=)
NM_000532.5(PCCB):c.801C>T (p.Ala267=)
NM_000532.5(PCCB):c.816G>C (p.Arg272=)
NM_000532.5(PCCB):c.852C>T (p.Asp284=)
NM_000532.5(PCCB):c.855G>A (p.Pro285=) rs982512877
NM_000532.5(PCCB):c.861C>A (p.Pro287=)
NM_000532.5(PCCB):c.861C>T (p.Pro287=)
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367
NM_000532.5(PCCB):c.876C>T (p.His292=) rs776893713
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126
NM_000532.5(PCCB):c.884+10A>G
NM_000532.5(PCCB):c.885-4A>C rs535943678
NM_000532.5(PCCB):c.885-7C>T rs1427637783
NM_000532.5(PCCB):c.888C>T (p.Asp296=)
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) rs549397464
NM_000532.5(PCCB):c.906T>G (p.Leu302=)
NM_000532.5(PCCB):c.909C>T (p.Asp303=)
NM_000532.5(PCCB):c.912A>G (p.Thr304=)
NM_000532.5(PCCB):c.933C>G (p.Thr311=)
NM_000532.5(PCCB):c.942C>T (p.Tyr314=)
NM_000532.5(PCCB):c.963C>T (p.His321=)
NM_000532.5(PCCB):c.966+9C>T
NM_000532.5(PCCB):c.96C>T (p.Ala32=)
NM_000532.5(PCCB):c.975T>C (p.Asp325=) rs746146640
NM_000532.5(PCCB):c.978G>A (p.Glu326=)
NM_001178014.1(PCCB):c.-37C>T rs145734157

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