ClinVar Miner

List of variants in gene ACADSB reported as benign for Deficiency of 2-methylbutyryl-CoA dehydrogenase

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Gene type:
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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001609.4(ACADSB):c.1129-90A>G rs2421166 0.98530
NM_001609.4(ACADSB):c.*3234C>G rs3763738 0.98476
NM_001609.4(ACADSB):c.*3819A>G rs3980942 0.98475
NM_001609.4(ACADSB):c.*1868C>G rs10902868 0.88218
NM_001609.4(ACADSB):c.*262C>T rs12248515 0.43449
NM_001609.4(ACADSB):c.*4467A>T rs6838 0.36866
NM_001609.4(ACADSB):c.38G>A (p.Arg13Lys) rs12263012 0.30009
NM_001609.4(ACADSB):c.*545G>A rs1140593 0.22894
NM_001609.4(ACADSB):c.639C>T (p.His213=) rs1140591 0.22709
NM_001609.4(ACADSB):c.*2331C>G rs7079265 0.20119
NM_001609.4(ACADSB):c.*2175A>C rs7909871 0.20108
NM_001609.4(ACADSB):c.*4426T>C rs7732 0.19948
NM_001609.4(ACADSB):c.*2490T>C rs7914164 0.19560
NM_001609.4(ACADSB):c.*1200A>T rs11248371 0.10587
NM_001609.4(ACADSB):c.*2113G>A rs7922412 0.10506
NM_001609.4(ACADSB):c.946A>G (p.Ile316Val) rs1131430 0.06319
NM_001609.4(ACADSB):c.*497C>T rs12248648 0.02030
NM_001609.4(ACADSB):c.*4135G>A rs74159956 0.01990
NM_001609.4(ACADSB):c.*2670C>T rs144203038 0.01950
NM_001609.4(ACADSB):c.168A>G (p.Thr56=) rs34221067 0.01697
NM_001609.4(ACADSB):c.*109G>A rs34955007 0.01422
NM_001609.3(ACADSB):c.-97T>C rs148327034 0.01294
NM_001609.3(ACADSB):c.-87G>T rs150850221 0.00878
NM_001609.3(ACADSB):c.-89G>T rs141443308 0.00878
NM_001609.4(ACADSB):c.*1972C>A rs187582823 0.00537
NM_001609.4(ACADSB):c.786G>A (p.Pro262=) rs76111609 0.00373
NM_001609.4(ACADSB):c.*1202G>A rs181209320 0.00371
NM_001609.4(ACADSB):c.*473G>C rs189484621 0.00370
NM_001609.4(ACADSB):c.*3299C>G rs116019965 0.00328
NM_001609.4(ACADSB):c.92A>G (p.His31Arg) rs57321698 0.00270
NM_001609.4(ACADSB):c.*358T>C rs184796725 0.00198
NM_001609.4(ACADSB):c.1014C>T (p.His338=) rs57339164 0.00125
NM_001609.4(ACADSB):c.*206A>C rs138299400 0.00066
NM_001609.4(ACADSB):c.1187A>C (p.Lys396Thr) rs148640214 0.00033
NM_001609.4(ACADSB):c.*3736G>T rs80159677 0.00018
NM_001609.4(ACADSB):c.726G>A (p.Pro242=) rs148114788 0.00009
NM_001609.4(ACADSB):c.1128+3A>T rs760423996 0.00003
NM_001609.3(ACADSB):c.-107G>A rs190149746
NM_001609.4(ACADSB):c.*133C>G rs58589087
NM_001609.4(ACADSB):c.*2957T>A rs115456304
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
NM_001609.4(ACADSB):c.511-14del

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