ClinVar Miner

List of variants reported as benign for classic organic aciduria by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
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HGVS dbSNP
NM_000019.3(ACAT1):c.*599A>C rs2280332
NM_000019.3(ACAT1):c.*777_*780delAATT rs112801981
NM_000019.4(ACAT1):c.-9T>A rs3741055
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro) rs3741056
NM_000116.3(TAZ):c.-120delT rs11388353
NM_000116.5(TAZ):c.*470= rs743547
NM_000191.3(HMGCL):c.*486G>A rs11714
NM_000191.3(HMGCL):c.654A>G (p.Leu218=) rs719400
NM_000411.7(HLCS):c.-466A>G rs117138955
NM_000411.7(HLCS):c.-471A>G rs118091633
NM_000411.7(HLCS):c.-480-12A>G rs115866403
NM_000411.8(HLCS):c.*2622G>A rs14407
NM_000411.8(HLCS):c.*3141_*3142dup rs3031056
NM_000411.8(HLCS):c.-405T>C rs117476389
NM_000411.8(HLCS):c.-433C>T rs115711809
NM_001017989.3(OPA3):c.143-17268T>C rs10422253
NM_001017989.3(OPA3):c.143-18046A>G rs11083772
NM_001017989.3(OPA3):c.143-18535G>A rs57585727
NM_001017989.3(OPA3):c.143-19201A>T rs4803833
NM_001017989.3(OPA3):c.143-19208_143-19206del rs144752998
NM_001017989.3(OPA3):c.143-19362ATAA[8] rs58537694
NM_001017989.3(OPA3):c.143-19740T>C rs4802261
NM_001017989.3(OPA3):c.143-19926CCCTG[3] rs68079762
NM_001017989.3(OPA3):c.143-20671G>A rs3760844
NM_001017989.3(OPA3):c.143-20947AGC[3] rs542311224
NM_001017989.3(OPA3):c.143-22108G>A rs4404183
NM_001017989.3(OPA3):c.143-22770dup rs74313320
NM_001017989.3(OPA3):c.143-23072del rs377547137
NM_001017989.3(OPA3):c.143-23906G>A rs3826861
NM_001017989.3(OPA3):c.143-24367T>C rs3826860
NM_001293273.1(MCCC1):c.-192G>C rs937652
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641
NM_001609.3(ACADSB):c.*1868C>G rs10902868
NM_001609.3(ACADSB):c.*2175A>C rs7909871
NM_001609.3(ACADSB):c.*2331C>G rs7079265
NM_001609.3(ACADSB):c.*2490T>C rs7914164
NM_001609.3(ACADSB):c.*262C>T rs12248515
NM_001609.3(ACADSB):c.*3234C>G rs3763738
NM_001609.3(ACADSB):c.*3819A>G rs3980942
NM_001609.3(ACADSB):c.*4426T>C rs7732
NM_001609.3(ACADSB):c.*4467A>T rs6838
NM_001609.3(ACADSB):c.*545G>A rs1140593
NM_001609.3(ACADSB):c.38G>A (p.Arg13Lys) rs12263012
NM_001609.3(ACADSB):c.639C>T (p.His213=) rs1140591
NM_002225.5(IVD):c.*1471G>A rs4923865
NM_002225.5(IVD):c.*1577C>G rs11630850
NM_002225.5(IVD):c.*1610C>T rs11630878
NM_002225.5(IVD):c.*1893del rs398026948
NM_002225.5(IVD):c.*2275T>C rs11790
NM_002225.5(IVD):c.*261G>A rs2075624
NM_002225.5(IVD):c.*2844T>C rs7207
NM_002225.5(IVD):c.*3036del rs5812161
NM_002225.5(IVD):c.*808C>G rs2075625
NM_002225.5(IVD):c.234+14T>C rs2289331
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479
NM_022132.5(MCCC2):c.*1198C>T rs277975
NM_022132.5(MCCC2):c.*247C>T rs1135667
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=) rs10064079
NM_022132.5(MCCC2):c.904-12A>G rs277984
NM_145261.4(DNAJC19):c.*188G>A rs1051411

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