List of variants reported as benign for 2-methylbutyryl-CoA dehydrogenase deficiency by Invitae

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001372123.1(IKZF5):c.-280C>T	rs2277250	0.59177
NM_001609.4(ACADSB):c.38G>A (p.Arg13Lys)	rs12263012	0.30009
NM_001609.4(ACADSB):c.639C>T (p.His213=)	rs1140591	0.22709
NM_001609.4(ACADSB):c.946A>G (p.Ile316Val)	rs1131430	0.06319
NM_001609.4(ACADSB):c.168A>G (p.Thr56=)	rs34221067	0.01697
NM_001609.4(ACADSB):c.786G>A (p.Pro262=)	rs76111609	0.00373
NM_001609.4(ACADSB):c.92A>G (p.His31Arg)	rs57321698	0.00270
NM_001609.4(ACADSB):c.1014C>T (p.His338=)	rs57339164	0.00125
NM_001609.4(ACADSB):c.1187A>C (p.Lys396Thr)	rs148640214	0.00033
NM_001609.4(ACADSB):c.726G>A (p.Pro242=)	rs148114788	0.00009
NM_001609.4(ACADSB):c.1128+25_1128+26del
NM_001609.4(ACADSB):c.1228+20_1228+21del	rs11307362
NM_001609.4(ACADSB):c.1228+21del	rs11307362
NM_001609.4(ACADSB):c.45A>C (p.Leu15=)	rs564497027

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