ClinVar Miner

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

Included ClinVar conditions (39):
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Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP
NM_002225.3(IVD):c.-237G>C rs749128466
NM_002225.3(IVD):c.-315C>G rs886051126
NM_002225.3(IVD):c.1019G>A (p.Arg340Gln) rs139908696
NM_002225.3(IVD):c.417G>C (p.Gln139His) rs569537063
NM_002225.5(IVD):c.*1005T>C rs560096869
NM_002225.5(IVD):c.*1117G>A rs886051132
NM_002225.5(IVD):c.*1213A>T rs886051133
NM_002225.5(IVD):c.*123G>A rs536728525
NM_002225.5(IVD):c.*1898G>A rs886051134
NM_002225.5(IVD):c.*2005G>A rs886051135
NM_002225.5(IVD):c.*204T>G rs886051127
NM_002225.5(IVD):c.*2070C>T rs187887699
NM_002225.5(IVD):c.*2302G>A rs886051136
NM_002225.5(IVD):c.*2494C>G rs781683880
NM_002225.5(IVD):c.*2559G>A rs532233403
NM_002225.5(IVD):c.*2630G>A rs28654574
NM_002225.5(IVD):c.*2850A>G rs147367220
NM_002225.5(IVD):c.*290dup rs529793013
NM_002225.5(IVD):c.*338G>A rs879231133
NM_002225.5(IVD):c.*566A>G rs549510775
NM_002225.5(IVD):c.*611T>G rs886051130
NM_002225.5(IVD):c.*809G>A rs886051131
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)
NM_002225.5(IVD):c.1112T>C (p.Val371Ala)
NM_002225.5(IVD):c.1120G>A (p.Asp374Asn) rs1566941619
NM_002225.5(IVD):c.1139-3C>G rs367891946
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.148C>G (p.Arg50Gly)
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491
NM_002225.5(IVD):c.233G>C (p.Arg78Pro) rs771929559
NM_002225.5(IVD):c.268T>A (p.Leu90Met)
NM_002225.5(IVD):c.272G>A (p.Gly91Asp) rs1555403365
NM_002225.5(IVD):c.436A>G (p.Lys146Glu) rs1448656950
NM_002225.5(IVD):c.457-2A>G rs771914739
NM_002225.5(IVD):c.464G>A (p.Ser155Asn) rs140182461
NM_002225.5(IVD):c.516_518TGT[1] (p.Val174del) rs1566936030
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563
NM_002225.5(IVD):c.712_714AAG[1] (p.Lys239del) rs1555404430
NM_002225.5(IVD):c.784+13G>A rs369694967
NM_002225.5(IVD):c.796C>G (p.Leu266Val)
NM_002225.5(IVD):c.832A>C (p.Ser278Arg)
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.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)
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412
NM_002225.5(IVD):c.916C>G (p.Leu306Val) rs144418134

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