ClinVar Miner

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

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_000017.4(ACADS):c.990C>T (p.Arg330=) rs3915 0.59445
NM_000017.4(ACADS):c.321T>C (p.Arg107=) rs3914 0.51709
NM_000017.4(ACADS):c.*527A>G rs9204 0.29435
NM_000017.4(ACADS):c.*21G>C rs3916 0.21460
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_000017.4(ACADS):c.*249G>A rs628909 0.04756
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_000017.4(ACADS):c.*310C>G rs116733542 0.02741
NM_000017.4(ACADS):c.*5G>A rs2229533 0.02244
NM_000017.4(ACADS):c.*387A>G rs11065238 0.01712
NM_000017.4(ACADS):c.*500G>A rs639667 0.01483
NM_000017.4(ACADS):c.360C>T (p.Asn120=) rs76543640 0.01346
NM_000017.4(ACADS):c.*115G>A rs2229534 0.01325
NM_000017.4(ACADS):c.*200C>T rs137990231 0.00378
NM_000017.4(ACADS):c.796-14G>C rs201420791 0.00256
NM_000017.4(ACADS):c.423G>A (p.Thr141=) rs2239686 0.00237
NM_000017.4(ACADS):c.669G>A (p.Thr223=) rs17848089 0.00056
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144 0.00055
NM_000017.4(ACADS):c.*27C>T rs188190117 0.00043
NM_000017.4(ACADS):c.-56C>G rs567626964 0.00041
NM_000017.4(ACADS):c.624+8C>T rs371550264 0.00039
NM_000017.4(ACADS):c.*266G>T rs537512881 0.00029
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773 0.00020
NM_000017.4(ACADS):c.465C>T (p.Ser155=) rs141492002 0.00016
NM_000017.4(ACADS):c.825C>T (p.Ile275=) rs200652158 0.00014
NM_000017.4(ACADS):c.*4C>T rs774815274 0.00009
NM_000017.4(ACADS):c.1108A>G (p.Met370Val) rs566325901 0.00009
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys) rs28940872 0.00008
NM_000017.4(ACADS):c.327C>T (p.Cys109=) rs144083614 0.00007
NM_000017.4(ACADS):c.1095G>T (p.Gln365His) rs368469075 0.00006
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) rs767774362 0.00006
NM_000017.4(ACADS):c.624+11C>T rs763811046 0.00006
NM_000017.4(ACADS):c.*10G>A rs761682729 0.00004
NM_000017.4(ACADS):c.*37C>T rs377080695 0.00004
NM_000017.4(ACADS):c.1104C>T (p.Gly368=) rs200165866 0.00004
NM_000017.4(ACADS):c.663G>T (p.Gly221=) rs751023929 0.00004
NM_000017.4(ACADS):c.508G>T (p.Ala170Ser) rs765604622 0.00003
NM_000017.4(ACADS):c.497C>T (p.Ala166Val) rs1022406482 0.00002
NM_000017.4(ACADS):c.*178C>T rs1309551400 0.00001
NM_000017.4(ACADS):c.1135G>C (p.Glu379Gln) rs953436518 0.00001
NM_000017.4(ACADS):c.1209C>T (p.Ala403=) rs377069922 0.00001
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu) rs147442301 0.00001
NM_000017.4(ACADS):c.336C>T (p.Thr112=) rs768784437 0.00001
NM_000017.4(ACADS):c.473-9T>G rs751507296 0.00001
NM_000017.4(ACADS):c.578C>T (p.Ser193Leu) rs369167716 0.00001
NM_000017.4(ACADS):c.602C>T (p.Thr201Met) rs151059234 0.00001
NM_000017.4(ACADS):c.906G>A (p.Ala302=) rs763162492 0.00001
NM_000017.2(ACADS):c.*573G>C rs17848081
NM_000017.4(ACADS):c.*162C>T rs1273364186
NM_000017.4(ACADS):c.*174G>C rs886049032
NM_000017.4(ACADS):c.*235C>T rs1883596141
NM_000017.4(ACADS):c.*305C>A rs550652942
NM_000017.4(ACADS):c.*86C>T rs374762327
NM_000017.4(ACADS):c.*91G>T rs886049031
NM_000017.4(ACADS):c.-56C>T rs567626964
NM_000017.4(ACADS):c.1148G>T (p.Arg383Leu) rs35233375
NM_000017.4(ACADS):c.516C>T (p.Ala172=) rs531683812
NM_000017.4(ACADS):c.552C>T (p.Ala184=) rs886049030
NM_000017.4(ACADS):c.910dup (p.Leu304fs) rs1057516606

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