ClinVar Miner

List of variants reported as uncertain significance for Deficiency of 2-methylbutyryl-CoA dehydrogenase by Illumina Laboratory Services, Illumina

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Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_001609.4(ACADSB):c.*2803T>C rs187253795 0.00365
NM_001609.4(ACADSB):c.*808G>C rs41299169 0.00297
NM_001609.4(ACADSB):c.*277A>T rs149609453 0.00139
NM_001609.4(ACADSB):c.*285T>C rs552366364 0.00111
NM_001609.4(ACADSB):c.*2529G>A rs182831006 0.00098
NM_001609.4(ACADSB):c.*3390C>A rs751677400 0.00098
NM_001609.4(ACADSB):c.*2174A>G rs577027224 0.00092
NM_001609.4(ACADSB):c.1228+8G>C rs202191462 0.00058
NM_001609.4(ACADSB):c.*972A>G rs529575388 0.00043
NM_001609.4(ACADSB):c.*1508C>T rs886046788 0.00036
NM_001609.4(ACADSB):c.*3409A>T rs568844573 0.00036
NM_001609.4(ACADSB):c.*1337A>G rs190353878 0.00034
NM_001609.4(ACADSB):c.1187A>C (p.Lys396Thr) rs148640214 0.00033
NM_001609.4(ACADSB):c.*3332A>T rs763405920 0.00029
NM_001609.4(ACADSB):c.*3470T>C rs547577402 0.00029
NM_001609.4(ACADSB):c.*1907C>T rs886046793 0.00026
NM_001609.4(ACADSB):c.*3321C>T rs775939335 0.00022
NM_001609.4(ACADSB):c.*3597G>A rs755235760 0.00019
NM_001609.4(ACADSB):c.*84G>A rs574895675 0.00017
NM_001609.4(ACADSB):c.795C>T (p.Phe265=) rs150619709 0.00017
NM_001609.4(ACADSB):c.*1754A>G rs886046791 0.00013
NM_001609.4(ACADSB):c.*3619T>C rs886046802 0.00013
NM_001609.4(ACADSB):c.960A>T (p.Ile320=) rs147531541 0.00011
NM_001609.4(ACADSB):c.*2085C>T rs766980366 0.00010
NM_001609.4(ACADSB):c.*323G>A rs886046785 0.00009
NM_001609.4(ACADSB):c.*2060G>A rs886046795 0.00008
NM_001609.4(ACADSB):c.1213C>T (p.Arg405Ter) rs200154326 0.00008
NM_001609.4(ACADSB):c.*1865C>T rs1389294187 0.00007
NM_001609.4(ACADSB):c.*2548G>T rs545467732 0.00006
NM_001609.4(ACADSB):c.*2581A>C rs779662230 0.00006
NM_001609.3(ACADSB):c.-39G>A rs886046776 0.00004
NM_001609.4(ACADSB):c.*1827G>A rs559677030 0.00004
NM_001609.4(ACADSB):c.*498G>A rs891156805 0.00004
NM_001609.4(ACADSB):c.-22A>G rs563472823 0.00004
NM_001609.4(ACADSB):c.*3431C>G rs886046800 0.00003
NM_001609.4(ACADSB):c.*59G>A rs886046784 0.00003
NM_001609.4(ACADSB):c.*6A>G rs530087761 0.00003
NM_001609.4(ACADSB):c.*973A>G rs886046786 0.00003
NM_001609.4(ACADSB):c.1151A>T (p.Lys384Ile) rs760585344 0.00003
NM_001609.4(ACADSB):c.675T>C (p.Pro225=) rs770933347 0.00003
NM_001609.4(ACADSB):c.*1981G>A rs1267140155 0.00002
NM_001609.4(ACADSB):c.*263G>A rs1009551388 0.00002
NM_001609.4(ACADSB):c.*3941C>A rs886046804 0.00002
NM_001609.4(ACADSB):c.*57G>A rs886046783 0.00002
NM_001609.4(ACADSB):c.1184C>T (p.Thr395Ile) rs752034695 0.00002
NM_001609.4(ACADSB):c.*1942C>T rs886046794 0.00001
NM_001609.4(ACADSB):c.*4177G>A rs886046806 0.00001
NM_001609.4(ACADSB):c.1156A>G (p.Ile386Val) rs770827167 0.00001
NM_001609.4(ACADSB):c.1229-15T>G rs371377486 0.00001
NM_001609.4(ACADSB):c.1271T>C (p.Ile424Thr) rs748926593 0.00001
NM_001609.4(ACADSB):c.219G>A (p.Gln73=) rs756256851 0.00001
NM_001609.4(ACADSB):c.512T>G (p.Val171Gly) rs1343737959 0.00001
NM_001609.4(ACADSB):c.681+14C>T rs748185849 0.00001
NM_001609.4(ACADSB):c.95T>A (p.Val32Asp) rs751722805 0.00001
NM_001609.3(ACADSB):c.-102G>C rs886046775
NM_001609.3(ACADSB):c.-109A>T rs1283333224
NM_001609.3(ACADSB):c.-28G>T rs895185970
NM_001609.4(ACADSB):c.*1195C>A rs886046787
NM_001609.4(ACADSB):c.*1380G>A rs1850689161
NM_001609.4(ACADSB):c.*1543G>T rs886046789
NM_001609.4(ACADSB):c.*1552A>G rs1850691633
NM_001609.4(ACADSB):c.*1682T>C rs886046790
NM_001609.4(ACADSB):c.*1840T>G rs886046792
NM_001609.4(ACADSB):c.*195G>A rs552789169
NM_001609.4(ACADSB):c.*2224A>C rs192771453
NM_001609.4(ACADSB):c.*2329A>G rs543916865
NM_001609.4(ACADSB):c.*2339G>A rs886046796
NM_001609.4(ACADSB):c.*2686G>C rs886046797
NM_001609.4(ACADSB):c.*2922G>A rs184574685
NM_001609.4(ACADSB):c.*2950A>G rs886046798
NM_001609.4(ACADSB):c.*3178A>C rs185809458
NM_001609.4(ACADSB):c.*3340G>C rs886046799
NM_001609.4(ACADSB):c.*3483T>G rs886046801
NM_001609.4(ACADSB):c.*3911A>G rs1589748503
NM_001609.4(ACADSB):c.*3918G>A rs886046803
NM_001609.4(ACADSB):c.*3993T>A rs886046805
NM_001609.4(ACADSB):c.*4324G>T rs868646540
NM_001609.4(ACADSB):c.*808G>A rs41299169
NM_001609.4(ACADSB):c.-19G>C rs750986257
NM_001609.4(ACADSB):c.1062T>C (p.Ala354=) rs886046780
NM_001609.4(ACADSB):c.1128+2_1128+4del rs1564754575
NM_001609.4(ACADSB):c.1128+3A>G rs760423996
NM_001609.4(ACADSB):c.1170G>T (p.Gly390=) rs886046781
NM_001609.4(ACADSB):c.1219G>A (p.Ala407Thr) rs777906899
NM_001609.4(ACADSB):c.1228+21del rs11307362
NM_001609.4(ACADSB):c.370G>C (p.Val124Leu) rs375217368
NM_001609.4(ACADSB):c.429C>T (p.Asn143=) rs886046777
NM_001609.4(ACADSB):c.42G>T (p.Leu14=) rs745863047
NM_001609.4(ACADSB):c.496C>G (p.Leu166Val) rs186081101
NM_001609.4(ACADSB):c.544G>T (p.Gly182Cys) rs886046778
NM_001609.4(ACADSB):c.682-7T>C rs886046779

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