List of variants reported as uncertain significance for Deficiency of butyryl-CoA dehydrogenase by Genome-Nilou Lab

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000017.4(ACADS):c.668C>T (p.Thr223Met)	rs143131689	0.00006
NM_000017.4(ACADS):c.417G>C (p.Trp139Cys)	rs149107232	0.00004
NM_000017.4(ACADS):c.1057T>C (p.Ser353Pro)	rs796051904	0.00003
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys)	rs537072819	0.00003
NM_000017.4(ACADS):c.1105G>A (p.Gly369Ser)	rs145466253	0.00002
NM_000017.4(ACADS):c.826G>A (p.Ala276Thr)	rs199717731	0.00002
NM_000017.4(ACADS):c.1130C>T (p.Pro377Leu)	rs183161718	0.00001
NM_000017.4(ACADS):c.425C>G (p.Pro142Arg)	rs148297461	0.00001
NM_000017.4(ACADS):c.449G>T (p.Gly150Val)	rs1057524803	0.00001
NM_000017.4(ACADS):c.481A>G (p.Ser161Gly)	rs755856935	0.00001
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr)	rs202078273
NM_000017.4(ACADS):c.461T>G (p.Leu154Arg)	rs1057523592
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro)	rs777002501

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