ClinVar Miner

List of variants studied for Deficiency of isobutyryl-CoA dehydrogenase by Illumina Laboratory Services, Illumina

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_014384.3(ACAD8):c.*190C>T rs111296476 0.04945
NM_014384.3(ACAD8):c.*377C>T rs74738493 0.04945
NM_014384.3(ACAD8):c.*202A>C rs79738869 0.04943
NM_014384.3(ACAD8):c.841+7T>C rs77368661 0.04943
NM_014384.3(ACAD8):c.1195+12C>T rs75333832 0.04799
NM_014384.3(ACAD8):c.*195G>C rs113572770 0.04796
NM_014384.3(ACAD8):c.*277C>T rs75645586 0.04668
NM_014384.3(ACAD8):c.512C>G (p.Ser171Cys) rs113488591 0.01568
NM_014384.3(ACAD8):c.20G>C (p.Arg7Pro) rs35181923 0.01086
NM_014384.3(ACAD8):c.210+6C>T rs148089913 0.01003
NM_014384.3(ACAD8):c.211-4A>G rs517424 0.00927
NM_014384.3(ACAD8):c.*168G>A rs144390733 0.00658
NM_014384.3(ACAD8):c.*683A>G rs112534410 0.00538
NM_014384.3(ACAD8):c.842-8C>G rs201188279 0.00227
NM_014384.3(ACAD8):c.*652C>G rs139716145 0.00076
NM_014384.3(ACAD8):c.*622C>T rs146349594 0.00056
NM_014384.3(ACAD8):c.*494A>G rs148808998 0.00025
NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr) rs200620279 0.00019
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419 0.00016
NM_014384.3(ACAD8):c.*705T>G rs534413850 0.00014
NM_014384.3(ACAD8):c.887G>A (p.Arg296Gln) rs775062752 0.00011
NM_014384.3(ACAD8):c.567+12C>T rs375812492 0.00010
NM_014384.3(ACAD8):c.*82G>C rs964955100 0.00009
NM_014384.3(ACAD8):c.110-9T>C rs371550147 0.00009
NM_014384.3(ACAD8):c.481A>G (p.Thr161Ala) rs186756646 0.00009
NM_014384.3(ACAD8):c.*266T>A rs762508631 0.00008
NM_014384.3(ACAD8):c.841+9C>T rs777635296 0.00008
NM_014384.3(ACAD8):c.*238G>C rs886048026 0.00006
NM_014384.3(ACAD8):c.207G>A (p.Gln69=) rs199868020 0.00006
NM_014384.3(ACAD8):c.985G>A (p.Ala329Thr) rs751260935 0.00006
NM_014384.3(ACAD8):c.*608G>A rs143912522 0.00004
NM_014384.3(ACAD8):c.*696A>G rs886048029 0.00004
NM_014384.3(ACAD8):c.110-13A>G rs369626260 0.00004
NM_014384.3(ACAD8):c.1147G>A (p.Ala383Thr) rs200234092 0.00004
NM_014384.3(ACAD8):c.1233C>T (p.Ser411=) rs146145710 0.00003
NM_014384.3(ACAD8):c.730C>T (p.Arg244Ter) rs746960051 0.00003
NM_014384.3(ACAD8):c.491-6C>T rs772337149 0.00002
NM_014384.3(ACAD8):c.*351C>G rs561907589 0.00001
NM_014384.3(ACAD8):c.1092C>T (p.Ala364=) rs146813391 0.00001
NM_014384.3(ACAD8):c.337G>A (p.Ala113Thr) rs751633406 0.00001
NM_014384.3(ACAD8):c.380+7G>A rs1335335796 0.00001
NM_014384.3(ACAD8):c.494G>C (p.Ser165Thr) rs988461205 0.00001
NM_014384.3(ACAD8):c.525C>T (p.Ser175=) rs142343253 0.00001
NM_014384.3(ACAD8):c.558T>C (p.Asn186=) rs886048025 0.00001
NM_014384.3(ACAD8):c.643A>G (p.Ile215Val) rs151125742 0.00001
NM_014384.3(ACAD8):c.806C>T (p.Ala269Val) rs142790411 0.00001
NM_014384.3(ACAD8):c.842-15G>A rs778257880 0.00001
NM_014384.3(ACAD8):c.99C>T (p.Ser33=) rs886048021 0.00001
NM_014384.2(ACAD8):c.-67G>A rs112372624
NM_014384.3(ACAD8):c.*306C>T rs886048027
NM_014384.3(ACAD8):c.*441C>G rs886048028
NM_014384.3(ACAD8):c.*634T>C rs1940131247
NM_014384.3(ACAD8):c.*69G>T rs371730378
NM_014384.3(ACAD8):c.*874C>G rs756666725
NM_014384.3(ACAD8):c.275A>G (p.Gln92Arg) rs886048022
NM_014384.3(ACAD8):c.368T>A (p.Ile123Lys) rs1353919966
NM_014384.3(ACAD8):c.381-4T>A rs886048023
NM_014384.3(ACAD8):c.432A>G (p.Lys144=) rs886048024
NM_014384.3(ACAD8):c.453C>T (p.Thr151=) rs1939688110
NM_014384.3(ACAD8):c.833T>C (p.Ile278Thr) rs1317315596
NM_014384.3(ACAD8):c.841+15G>A rs770612690

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