ClinVar Miner

List of variants reported as uncertain significance for inborn disorder of amino acid and other organic acid metabolism by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (322):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_053013.4(ENO3):c.115G>A (p.Ala39Thr) rs141103742 0.00021
NM_000531.6(OTC):c.385C>T (p.Arg129Cys) rs140046498 0.00013
NM_000360.4(TH):c.91-868C>T rs148235227 0.00012
NM_018706.7(DHTKD1):c.718-5A>G rs374421488 0.00007
NM_000360.4(TH):c.110G>A (p.Arg37His) rs368122376 0.00005
NM_000531.6(OTC):c.1005+11A>T rs375524303 0.00005
NM_000081.4(LYST):c.1390G>A (p.Glu464Lys) rs374284011 0.00004
NM_000481.4(AMT):c.1082C>T (p.Ala361Val) rs757293245 0.00003
NM_001876.4(CPT1A):c.1112C>T (p.Ser371Leu) rs376430455 0.00003
NM_003597.5(KLF11):c.23G>A (p.Gly8Asp) rs1553312826 0.00003
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) rs141322087 0.00002
NM_001807.6(CEL):c.341-2A>G rs755075929 0.00002
NM_005957.5(MTHFR):c.1571C>A (p.Ala524Glu) rs774934088 0.00002
NM_001498.4(GCLC):c.482A>G (p.Lys161Arg) rs376535220 0.00001
NM_001876.4(CPT1A):c.421G>A (p.Gly141Ser) rs1309112630 0.00001
NM_001931.5(DLAT):c.1399A>C (p.Ile467Leu) rs1221769620 0.00001
NM_003124.5(SPR):c.610G>C (p.Asp204His) rs1430511579 0.00001
NM_004483.5(GCSH):c.49C>T (p.Arg17Cys) rs967101315 0.00001
NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln) rs149611886 0.00001
NM_000081.4(LYST):c.11038+11T>C
NM_000108.5(DLD):c.857A>G (p.Asp286Gly) rs192349677
NM_000126.4(ETFA):c.379C>T (p.Leu127Phe) rs910012804
NM_000284.4(PDHA1):c.1014_1034dup (p.Lys344_Glu345insAspAspValGluValArgLys) rs2063244761
NM_000284.4(PDHA1):c.65G>C (p.Arg22Thr) rs1057518756
NM_000284.4(PDHA1):c.998_1008+20dup rs2063233544
NM_000352.6(ABCC8):c.3399+6G>A rs1954472209
NM_000360.4(TH):c.818A>C (p.Glu273Ala) rs1846110049
NM_000531.6(OTC):c.845A>G (p.Gln282Arg) rs2068530314
NM_001690.4(ATP6V1A):c.1227-6A>G rs1709148623
NM_001690.4(ATP6V1A):c.1531G>C (p.Val511Leu) rs1709239976
NM_001876.4(CPT1A):c.1528C>T (p.Pro510Ser) rs1279443212
NM_001918.5(DBT):c.391G>A (p.Val131Met) rs1663510723
NM_002860.4(ALDH18A1):c.1990C>T (p.Leu664Phe) rs2097834101
NM_002860.4(ALDH18A1):c.2159T>C (p.Phe720Ser) rs2097831271
NM_002860.4(ALDH18A1):c.89-6C>G rs2097895286
NM_003124.5(SPR):c.308C>G (p.Ser103Cys) rs748740519
NM_003124.5(SPR):c.497G>A (p.Gly166Asp) rs1404932614
NM_003477.3(PDHX):c.1204G>T (p.Asp402Tyr) rs756801221
NM_005271.5(GLUD1):c.226C>T (p.Arg76Cys) rs1841666156
NM_005629.4(SLC6A8):c.1767+9C>G rs782076464
NM_006859.4(LIAS):c.393+7C>G rs372423537
NM_020166.5(MCCC1):c.370-16T>G rs1716772551
NM_175914.5(HNF4A):c.944TGC[4] (p.Leu319del) rs776489992

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