List of variants reported as uncertain significance for Deficiency of butyryl-CoA dehydrogenase by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 37

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HGVS	dbSNP	gnomAD frequency
NM_000017.4(ACADS):c.669G>A (p.Thr223=)	rs17848089	0.00056
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.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.327C>T (p.Cys109=)	rs144083614	0.00007
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.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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