ClinVar Miner

List of variants in gene IVD reported as uncertain significance for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 118
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HGVS dbSNP
NM_002225.3(IVD):c.-237G>C rs749128466
NM_002225.3(IVD):c.-315C>G rs886051126
NM_002225.5(IVD):c.*1005T>C rs560096869
NM_002225.5(IVD):c.*1090A>G
NM_002225.5(IVD):c.*1117G>A rs886051132
NM_002225.5(IVD):c.*112G>T
NM_002225.5(IVD):c.*1172C>T
NM_002225.5(IVD):c.*1213A>T rs886051133
NM_002225.5(IVD):c.*123G>A rs536728525
NM_002225.5(IVD):c.*1240T>A
NM_002225.5(IVD):c.*1245C>T
NM_002225.5(IVD):c.*1313C>G
NM_002225.5(IVD):c.*131G>A
NM_002225.5(IVD):c.*1636G>A
NM_002225.5(IVD):c.*1839C>G
NM_002225.5(IVD):c.*1884G>A
NM_002225.5(IVD):c.*1898G>A rs886051134
NM_002225.5(IVD):c.*1944C>T
NM_002225.5(IVD):c.*196G>A
NM_002225.5(IVD):c.*1984G>C
NM_002225.5(IVD):c.*2001G>A
NM_002225.5(IVD):c.*2005G>A rs886051135
NM_002225.5(IVD):c.*204T>G rs886051127
NM_002225.5(IVD):c.*2125A>C
NM_002225.5(IVD):c.*2205C>T
NM_002225.5(IVD):c.*2302G>A rs886051136
NM_002225.5(IVD):c.*2389C>T
NM_002225.5(IVD):c.*2494C>G rs781683880
NM_002225.5(IVD):c.*2494C>T
NM_002225.5(IVD):c.*2630G>A rs28654574
NM_002225.5(IVD):c.*287C>T
NM_002225.5(IVD):c.*2883T>A
NM_002225.5(IVD):c.*290dup rs529793013
NM_002225.5(IVD):c.*2960C>T
NM_002225.5(IVD):c.*3036A>C
NM_002225.5(IVD):c.*338G>A rs879231133
NM_002225.5(IVD):c.*566A>G rs549510775
NM_002225.5(IVD):c.*566A>T
NM_002225.5(IVD):c.*568A>T
NM_002225.5(IVD):c.*611T>G rs886051130
NM_002225.5(IVD):c.*652C>T
NM_002225.5(IVD):c.*699G>A
NM_002225.5(IVD):c.*787T>C
NM_002225.5(IVD):c.*798A>G
NM_002225.5(IVD):c.*805G>A
NM_002225.5(IVD):c.*809G>A rs886051131
NM_002225.5(IVD):c.*822G>T
NM_002225.5(IVD):c.-8T>G rs566691073
NM_002225.5(IVD):c.1001T>C (p.Met334Thr) rs368041528
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp) rs776608445
NM_002225.5(IVD):c.1010G>A (p.Arg337Gln) rs139908696
NM_002225.5(IVD):c.1112T>C (p.Val371Ala) rs754600862
NM_002225.5(IVD):c.1120G>A (p.Asp374Asn) rs1566941619
NM_002225.5(IVD):c.1136T>C (p.Phe379Ser)
NM_002225.5(IVD):c.1138+13C>T
NM_002225.5(IVD):c.1138G>C (p.Gly380Arg)
NM_002225.5(IVD):c.1139-3C>G rs367891946
NM_002225.5(IVD):c.1139-8G>C rs755640305
NM_002225.5(IVD):c.1160A>G (p.Asp387Gly) rs1163816425
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr) rs763422682
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838
NM_002225.5(IVD):c.1243G>A (p.Gly415Ser) rs150855952
NM_002225.5(IVD):c.133G>A (p.Glu45Lys)
NM_002225.5(IVD):c.137A>G (p.Gln46Arg)
NM_002225.5(IVD):c.148C>G (p.Arg50Gly) rs34695403
NM_002225.5(IVD):c.150T>A (p.Arg50=) rs762440985
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491
NM_002225.5(IVD):c.17G>A (p.Arg6Gln)
NM_002225.5(IVD):c.202A>G (p.Ile68Val)
NM_002225.5(IVD):c.233G>C (p.Arg78Pro) rs771929559
NM_002225.5(IVD):c.264C>T (p.Gly88=) rs377199313
NM_002225.5(IVD):c.268T>A (p.Leu90Met) rs780854004
NM_002225.5(IVD):c.272G>A (p.Gly91Asp) rs1555403365
NM_002225.5(IVD):c.307C>G (p.Leu103Val)
NM_002225.5(IVD):c.334A>T (p.Met112Leu)
NM_002225.5(IVD):c.357C>T (p.Ser119=)
NM_002225.5(IVD):c.400A>G (p.Ile134Val) rs151118565
NM_002225.5(IVD):c.408G>C (p.Gln136His) rs569537063
NM_002225.5(IVD):c.436A>G (p.Lys146Glu) rs1448656950
NM_002225.5(IVD):c.438A>G (p.Lys146=) rs1007239169
NM_002225.5(IVD):c.456G>A (p.Lys152=) rs886044117
NM_002225.5(IVD):c.457-2A>G rs771914739
NM_002225.5(IVD):c.464G>A (p.Ser155Asn) rs140182461
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup) rs796051982
NM_002225.5(IVD):c.467G>C (p.Gly156Ala)
NM_002225.5(IVD):c.490A>G (p.Met164Val)
NM_002225.5(IVD):c.516TGT[1] (p.Val174del) rs1566936030
NM_002225.5(IVD):c.521T>G (p.Val174Gly)
NM_002225.5(IVD):c.52C>T (p.Arg18Trp)
NM_002225.5(IVD):c.550+6G>A
NM_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285
NM_002225.5(IVD):c.60G>T (p.Pro20=)
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002225.5(IVD):c.678T>G (p.Ile226Met)
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563
NM_002225.5(IVD):c.710C>T (p.Ser237Phe)
NM_002225.5(IVD):c.712AAG[1] (p.Lys239del) rs1555404430
NM_002225.5(IVD):c.784+13G>A rs369694967
NM_002225.5(IVD):c.784+9C>T
NM_002225.5(IVD):c.796C>G (p.Leu266Val) rs766980574
NM_002225.5(IVD):c.803A>G (p.His268Arg)
NM_002225.5(IVD):c.823G>C (p.Val275Leu)
NM_002225.5(IVD):c.832A>C (p.Ser278Arg) rs552272986
NM_002225.5(IVD):c.833G>C (p.Ser278Thr)
NM_002225.5(IVD):c.848A>G (p.Glu283Gly) rs1314850102
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)
NM_002225.5(IVD):c.865G>T (p.Gly289Trp)
NM_002225.5(IVD):c.870G>T (p.Gly290=)
NM_002225.5(IVD):c.875T>C (p.Leu292Pro) rs1555404843
NM_002225.5(IVD):c.879-5G>A rs750569823
NM_002225.5(IVD):c.881T>C (p.Leu294Pro) rs1555404933
NM_002225.5(IVD):c.887A>T (p.Gln296Leu) rs1595786862
NM_002225.5(IVD):c.895C>G (p.Leu299Val)
NM_002225.5(IVD):c.961T>C (p.Leu321=) rs146011049
NM_002225.5(IVD):c.967C>G (p.Gln323Glu)
NM_002225.5(IVD):c.995G>T (p.Arg332Leu)

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