ClinVar Miner

List of variants reported as uncertain significance for Deficiency of 2-methylbutyryl-CoA dehydrogenase by Invitae

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_001609.4(ACADSB):c.67T>G (p.Leu23Val) rs149562178 0.00053
NM_001609.4(ACADSB):c.1102T>C (p.Ser368Pro) rs774205809 0.00042
NM_001609.4(ACADSB):c.1128+2dup rs762666946 0.00016
NM_001609.4(ACADSB):c.725C>T (p.Pro242Leu) rs143736049 0.00010
NM_001609.4(ACADSB):c.1213C>T (p.Arg405Ter) rs200154326 0.00008
NM_001609.4(ACADSB):c.202G>T (p.Val68Phe) rs144894218 0.00008
NM_001609.4(ACADSB):c.1015G>A (p.Val339Met) rs150034487 0.00006
NM_001609.4(ACADSB):c.1145C>T (p.Thr382Met) rs772084235 0.00005
NM_001609.4(ACADSB):c.439A>T (p.Asn147Tyr) rs747291865 0.00005
NM_001609.4(ACADSB):c.1232C>T (p.Thr411Met) rs374629804 0.00004
NM_001609.4(ACADSB):c.157C>T (p.Pro53Ser) rs150022323 0.00004
NM_001609.4(ACADSB):c.733C>T (p.His245Tyr) rs761098384 0.00004
NM_001609.4(ACADSB):c.1151A>T (p.Lys384Ile) rs760585344 0.00003
NM_001609.4(ACADSB):c.1186A>G (p.Lys396Glu) rs199963793 0.00003
NM_001609.4(ACADSB):c.176A>G (p.Asp59Gly) rs1375520384 0.00003
NM_001609.4(ACADSB):c.1100C>T (p.Ala367Val) rs745900584 0.00002
NM_001609.4(ACADSB):c.260C>T (p.Ser87Leu) rs745481903 0.00002
NM_001609.4(ACADSB):c.1060G>A (p.Ala354Thr) rs200548567 0.00001
NM_001609.4(ACADSB):c.1138C>G (p.Gln380Glu) rs748042148 0.00001
NM_001609.4(ACADSB):c.1154G>A (p.Cys385Tyr) rs1370215763 0.00001
NM_001609.4(ACADSB):c.1156A>G (p.Ile386Val) rs770827167 0.00001
NM_001609.4(ACADSB):c.1168G>A (p.Gly390Arg) rs764095189 0.00001
NM_001609.4(ACADSB):c.1271T>C (p.Ile424Thr) rs748926593 0.00001
NM_001609.4(ACADSB):c.154G>A (p.Ala52Thr) rs1164586012 0.00001
NM_001609.4(ACADSB):c.265A>G (p.Met89Val) rs372537859 0.00001
NM_001609.4(ACADSB):c.680T>C (p.Ile227Thr) rs755158007 0.00001
NM_001609.4(ACADSB):c.796G>A (p.Glu266Lys) rs1266747835 0.00001
NM_001609.4(ACADSB):c.1014C>G (p.His338Gln) rs57339164
NM_001609.4(ACADSB):c.1033G>A (p.Ala345Thr)
NM_001609.4(ACADSB):c.1128+2_1128+3insTA rs1554874107
NM_001609.4(ACADSB):c.1135G>A (p.Gly379Arg)
NM_001609.4(ACADSB):c.1178G>T (p.Gly393Val)
NM_001609.4(ACADSB):c.1229G>T (p.Gly410Val)
NM_001609.4(ACADSB):c.1255A>T (p.Ile419Phe)
NM_001609.4(ACADSB):c.1265A>C (p.Asn422Thr) rs1430062937
NM_001609.4(ACADSB):c.13G>A (p.Ala5Thr) rs2133445397
NM_001609.4(ACADSB):c.20G>T (p.Arg7Leu) rs1179957829
NM_001609.4(ACADSB):c.334G>A (p.Gly112Arg) rs1564751382
NM_001609.4(ACADSB):c.370G>A (p.Val124Met)
NM_001609.4(ACADSB):c.370G>C (p.Val124Leu) rs375217368
NM_001609.4(ACADSB):c.421A>C (p.Ile141Leu) rs753508431
NM_001609.4(ACADSB):c.42G>A (p.Leu14=) rs745863047
NM_001609.4(ACADSB):c.436A>T (p.Ile146Phe)
NM_001609.4(ACADSB):c.541G>A (p.Ala181Thr)
NM_001609.4(ACADSB):c.542C>T (p.Ala181Val)
NM_001609.4(ACADSB):c.544G>T (p.Gly182Cys) rs886046778
NM_001609.4(ACADSB):c.640G>A (p.Ala214Thr)
NM_001609.4(ACADSB):c.710T>C (p.Val237Ala)
NM_001609.4(ACADSB):c.736A>G (p.Ile246Val)
NM_001609.4(ACADSB):c.785C>T (p.Pro262Leu)
NM_001609.4(ACADSB):c.795C>G (p.Phe265Leu)
NM_001609.4(ACADSB):c.79A>G (p.Lys27Glu)
NM_001609.4(ACADSB):c.803T>C (p.Val268Ala) rs2133483475
NM_001609.4(ACADSB):c.8G>A (p.Gly3Asp)
NM_001609.4(ACADSB):c.8G>C (p.Gly3Ala)
NM_001609.4(ACADSB):c.958A>T (p.Ile320Leu) rs1554873785

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