ClinVar Miner

List of variants in gene ACAD8 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: 43
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HGVS dbSNP
NM_014384.2(ACAD8):c.*168G>A rs144390733
NM_014384.2(ACAD8):c.*238G>C rs886048026
NM_014384.2(ACAD8):c.*306C>T rs886048027
NM_014384.2(ACAD8):c.*351C>G rs561907589
NM_014384.2(ACAD8):c.*441C>G rs886048028
NM_014384.2(ACAD8):c.*494A>G rs148808998
NM_014384.2(ACAD8):c.*608G>A rs143912522
NM_014384.2(ACAD8):c.*652C>G rs139716145
NM_014384.2(ACAD8):c.*696A>G rs886048029
NM_014384.2(ACAD8):c.*705T>G rs534413850
NM_014384.2(ACAD8):c.*874C>G rs756666725
NM_014384.2(ACAD8):c.1000C>T (p.Arg334Cys)
NM_014384.2(ACAD8):c.1004A>G (p.Asn335Ser) rs768954546
NM_014384.2(ACAD8):c.1092C>T (p.Ala364=) rs146813391
NM_014384.2(ACAD8):c.110-9T>C rs371550147
NM_014384.2(ACAD8):c.1233C>T (p.Ser411=) rs146145710
NM_014384.2(ACAD8):c.211-4A>G rs517424
NM_014384.2(ACAD8):c.250C>G (p.Leu84Val) rs1330918776
NM_014384.2(ACAD8):c.275A>G (p.Gln92Arg) rs886048022
NM_014384.2(ACAD8):c.292T>C (p.Ser98Pro)
NM_014384.2(ACAD8):c.293C>T (p.Ser98Phe) rs948304437
NM_014384.2(ACAD8):c.2T>C (p.Met1Thr)
NM_014384.2(ACAD8):c.308T>G (p.Leu103Arg)
NM_014384.2(ACAD8):c.337G>A (p.Ala113Thr) rs751633406
NM_014384.2(ACAD8):c.381-4T>A rs886048023
NM_014384.2(ACAD8):c.409G>A (p.Gly137Arg) rs371449613
NM_014384.2(ACAD8):c.432A>G (p.Lys144=) rs886048024
NM_014384.2(ACAD8):c.466G>T (p.Ala156Ser) rs201273972
NM_014384.2(ACAD8):c.525C>T (p.Ser175=) rs142343253
NM_014384.2(ACAD8):c.558T>C (p.Asn186=) rs886048025
NM_014384.2(ACAD8):c.567+12C>T rs375812492
NM_014384.2(ACAD8):c.643A>G (p.Ile215Val)
NM_014384.2(ACAD8):c.730C>T (p.Arg244Ter) rs746960051
NM_014384.2(ACAD8):c.734C>T (p.Ala245Val)
NM_014384.2(ACAD8):c.784G>A (p.Glu262Lys) rs368653287
NM_014384.2(ACAD8):c.841+15G>A rs770612690
NM_014384.2(ACAD8):c.841+9C>T rs777635296
NM_014384.2(ACAD8):c.842-8C>G rs201188279
NM_014384.2(ACAD8):c.905G>C (p.Arg302Pro)
NM_014384.2(ACAD8):c.958G>A (p.Ala320Thr) rs200620279
NM_014384.2(ACAD8):c.965T>C (p.Met322Thr) rs577976129
NM_014384.2(ACAD8):c.988C>T (p.Arg330Trp) rs121908420
NM_014384.2(ACAD8):c.99C>T (p.Ser33=) rs886048021

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