ClinVar Miner

List of variants reported as uncertain significance for 2-methylbutyryl-CoA dehydrogenase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 86
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HGVS dbSNP
NM_001609.3(ACADSB):c.*109G>A rs34955007
NM_001609.3(ACADSB):c.*1195C>A rs886046787
NM_001609.3(ACADSB):c.*1202G>A rs181209320
NM_001609.3(ACADSB):c.*1337A>G rs190353878
NM_001609.3(ACADSB):c.*1445A>T rs182952282
NM_001609.3(ACADSB):c.*1508C>T rs886046788
NM_001609.3(ACADSB):c.*1543G>T rs886046789
NM_001609.3(ACADSB):c.*1682T>C rs886046790
NM_001609.3(ACADSB):c.*1754A>G rs886046791
NM_001609.3(ACADSB):c.*1826C>T rs568834686
NM_001609.3(ACADSB):c.*1840T>G rs886046792
NM_001609.3(ACADSB):c.*1907C>T rs886046793
NM_001609.3(ACADSB):c.*1920G>T rs141894735
NM_001609.3(ACADSB):c.*1942C>T rs886046794
NM_001609.3(ACADSB):c.*1972C>A rs187582823
NM_001609.3(ACADSB):c.*2060G>A rs886046795
NM_001609.3(ACADSB):c.*206A>C rs138299400
NM_001609.3(ACADSB):c.*2085C>T rs766980366
NM_001609.3(ACADSB):c.*2174A>G rs577027224
NM_001609.3(ACADSB):c.*2224A>C rs192771453
NM_001609.3(ACADSB):c.*2227A>G rs149926796
NM_001609.3(ACADSB):c.*2329A>G rs543916865
NM_001609.3(ACADSB):c.*2339G>A rs886046796
NM_001609.3(ACADSB):c.*2529G>A rs182831006
NM_001609.3(ACADSB):c.*2548G>T rs545467732
NM_001609.3(ACADSB):c.*2686G>C rs886046797
NM_001609.3(ACADSB):c.*277A>T rs149609453
NM_001609.3(ACADSB):c.*2803T>C rs187253795
NM_001609.3(ACADSB):c.*285T>C rs552366364
NM_001609.3(ACADSB):c.*2922G>A rs184574685
NM_001609.3(ACADSB):c.*2950A>G rs886046798
NM_001609.3(ACADSB):c.*30G>A rs141805585
NM_001609.3(ACADSB):c.*3130A>G rs41291348
NM_001609.3(ACADSB):c.*323G>A rs886046785
NM_001609.3(ACADSB):c.*3299C>G rs116019965
NM_001609.3(ACADSB):c.*3340G>C rs886046799
NM_001609.3(ACADSB):c.*3390C>A rs751677400
NM_001609.3(ACADSB):c.*3431C>G rs886046800
NM_001609.3(ACADSB):c.*3470T>C rs547577402
NM_001609.3(ACADSB):c.*3483T>G rs886046801
NM_001609.3(ACADSB):c.*358T>C rs184796725
NM_001609.3(ACADSB):c.*3597G>A rs755235760
NM_001609.3(ACADSB):c.*3619T>C rs886046802
NM_001609.3(ACADSB):c.*3907C>G rs185346880
NM_001609.3(ACADSB):c.*3918G>A rs886046803
NM_001609.3(ACADSB):c.*3941C>A rs886046804
NM_001609.3(ACADSB):c.*3993T>A rs886046805
NM_001609.3(ACADSB):c.*4177G>A rs886046806
NM_001609.3(ACADSB):c.*473G>C rs189484621
NM_001609.3(ACADSB):c.*57G>A rs886046783
NM_001609.3(ACADSB):c.*59G>A rs886046784
NM_001609.3(ACADSB):c.*6A>G rs530087761
NM_001609.3(ACADSB):c.*78C>T rs117078411
NM_001609.3(ACADSB):c.*973A>G rs886046786
NM_001609.3(ACADSB):c.-102G>C rs886046775
NM_001609.3(ACADSB):c.-22A>G rs563472823
NM_001609.3(ACADSB):c.-39G>A rs886046776
NM_001609.3(ACADSB):c.-97T>C rs148327034
NM_001609.3(ACADSB):c.1062T>C (p.Ala354=) rs886046780
NM_001609.3(ACADSB):c.1128+2_1128+3insTA rs1554874107
NM_001609.3(ACADSB):c.1128+2_1128+4delTAA
NM_001609.3(ACADSB):c.1128+3A>G rs760423996
NM_001609.3(ACADSB):c.1128+3A>T rs760423996
NM_001609.3(ACADSB):c.1156A>G (p.Ile386Val) rs770827167
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280
NM_001609.3(ACADSB):c.1170G>T (p.Gly390=) rs886046781
NM_001609.3(ACADSB):c.1186A>G (p.Lys396Glu) rs199963793
NM_001609.3(ACADSB):c.1187A>C (p.Lys396Thr) rs148640214
NM_001609.3(ACADSB):c.1213C>T (p.Arg405Ter)
NM_001609.3(ACADSB):c.1228+21delT rs11307362
NM_001609.3(ACADSB):c.1228+8G>C rs202191462
NM_001609.3(ACADSB):c.1271T>C (p.Ile424Thr) rs748926593
NM_001609.3(ACADSB):c.176A>G (p.Asp59Gly)
NM_001609.3(ACADSB):c.334G>A (p.Gly112Arg)
NM_001609.3(ACADSB):c.429C>T (p.Asn143=) rs886046777
NM_001609.3(ACADSB):c.42G>A (p.Leu14=) rs745863047
NM_001609.3(ACADSB):c.42G>T (p.Leu14=) rs745863047
NM_001609.3(ACADSB):c.544G>T (p.Gly182Cys) rs886046778
NM_001609.3(ACADSB):c.621G>A (p.Trp207Ter) rs374420253
NM_001609.3(ACADSB):c.655G>A (p.Val219Met)
NM_001609.3(ACADSB):c.681+14C>T rs748185849
NM_001609.3(ACADSB):c.682-7T>C rs886046779
NM_001609.3(ACADSB):c.786G>A (p.Pro262=) rs76111609
NM_001609.3(ACADSB):c.795C>T (p.Phe265=) rs150619709
NM_001609.3(ACADSB):c.958A>T (p.Ile320Leu) rs1554873785
NM_001609.3(ACADSB):c.95T>A (p.Val32Asp) rs751722805

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