ClinVar Miner

List of variants studied for Deficiency of 2-methylbutyryl-CoA dehydrogenase by Invitae

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Total variants: 129
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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.452G>A (p.Arg151Lys) rs140747102 0.00104
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile) rs58639322 0.00060
NM_001609.4(ACADSB):c.1228+8G>C rs202191462 0.00058
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.303+1G>A rs147936696 0.00037
NM_001609.4(ACADSB):c.375dup (p.Glu126fs) rs756587384 0.00037
NM_001609.4(ACADSB):c.990+11A>T rs376944892 0.00034
NM_001609.4(ACADSB):c.1187A>C (p.Lys396Thr) rs148640214 0.00033
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280 0.00026
NM_001609.4(ACADSB):c.795C>T (p.Phe265=) rs150619709 0.00017
NM_001609.4(ACADSB):c.1128+2dup rs762666946 0.00016
NM_001609.4(ACADSB):c.960A>T (p.Ile320=) rs147531541 0.00011
NM_001609.4(ACADSB):c.1101G>A (p.Ala367=) rs145295182 0.00010
NM_001609.4(ACADSB):c.725C>T (p.Pro242Leu) rs143736049 0.00010
NM_001609.4(ACADSB):c.807+10G>A rs367568388 0.00010
NM_001609.4(ACADSB):c.726G>A (p.Pro242=) rs148114788 0.00009
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.621G>A (p.Trp207Ter) rs374420253 0.00008
NM_001609.4(ACADSB):c.1015G>A (p.Val339Met) rs150034487 0.00006
NM_001609.4(ACADSB):c.757T>C (p.Leu253=) rs776888756 0.00006
NM_001609.4(ACADSB):c.1128+1G>A rs1564754571 0.00005
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.603C>G (p.Leu201=) rs368834489 0.00005
NM_001609.4(ACADSB):c.682-20G>A rs142778552 0.00005
NM_001609.4(ACADSB):c.1165A>G (p.Met389Val) rs201877440 0.00004
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.510+13G>C rs773089971 0.00004
NM_001609.4(ACADSB):c.733C>T (p.His245Tyr) rs761098384 0.00004
NM_001609.4(ACADSB):c.1026G>A (p.Gln342=) rs755539165 0.00003
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.675T>C (p.Pro225=) rs770933347 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.763C>T (p.Leu255Phe) rs137852649 0.00002
NM_001609.4(ACADSB):c.915G>A (p.Ala305=) rs371907721 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.1233G>A (p.Thr411=) rs755167353 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.219G>A (p.Gln73=) rs756256851 0.00001
NM_001609.4(ACADSB):c.265A>G (p.Met89Val) rs372537859 0.00001
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter) rs760791287 0.00001
NM_001609.4(ACADSB):c.303+3A>G rs1345480688 0.00001
NM_001609.4(ACADSB):c.426G>A (p.Gln142=) rs748754507 0.00001
NM_001609.4(ACADSB):c.511-6A>G rs773071242 0.00001
NM_001609.4(ACADSB):c.555A>G (p.Ser185=) rs762414612 0.00001
NM_001609.4(ACADSB):c.655G>A (p.Val219Met) rs553730391 0.00001
NM_001609.4(ACADSB):c.669A>G (p.Val223=) rs750818948 0.00001
NM_001609.4(ACADSB):c.680T>C (p.Ile227Thr) rs755158007 0.00001
NM_001609.4(ACADSB):c.681+14C>T rs748185849 0.00001
NM_001609.4(ACADSB):c.796G>A (p.Glu266Lys) rs1266747835 0.00001
NM_001609.4(ACADSB):c.923G>A (p.Cys308Tyr) rs770456976 0.00001
NC_000010.11:g.(?_123034356)_(123041379_?)del
NM_001609.4(ACADSB):c.1008G>A (p.Val336=) rs1240421187
NM_001609.4(ACADSB):c.1014C>G (p.His338Gln) rs57339164
NM_001609.4(ACADSB):c.1033G>A (p.Ala345Thr)
NM_001609.4(ACADSB):c.1041A>G (p.Arg347=)
NM_001609.4(ACADSB):c.1056T>C (p.Asn352=)
NM_001609.4(ACADSB):c.1062T>C (p.Ala354=) rs886046780
NM_001609.4(ACADSB):c.1065G>A (p.Arg355=)
NM_001609.4(ACADSB):c.1128+1_1128+3del rs1228768873
NM_001609.4(ACADSB):c.1128+25_1128+26del
NM_001609.4(ACADSB):c.1128+2_1128+3insTA rs1554874107
NM_001609.4(ACADSB):c.1135G>A (p.Gly379Arg)
NM_001609.4(ACADSB):c.1172del (p.Gly391fs)
NM_001609.4(ACADSB):c.1178G>T (p.Gly393Val)
NM_001609.4(ACADSB):c.1228+1G>A rs943046481
NM_001609.4(ACADSB):c.1228+20_1228+21del rs11307362
NM_001609.4(ACADSB):c.1228+21del rs11307362
NM_001609.4(ACADSB):c.1228+7A>G
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.159C>T (p.Pro53=) rs1370145865
NM_001609.4(ACADSB):c.202+1G>C
NM_001609.4(ACADSB):c.20G>T (p.Arg7Leu) rs1179957829
NM_001609.4(ACADSB):c.261G>A (p.Ser87=)
NM_001609.4(ACADSB):c.275C>G (p.Ser92Ter)
NM_001609.4(ACADSB):c.334G>A (p.Gly112Arg) rs1564751382
NM_001609.4(ACADSB):c.336A>G (p.Gly112=)
NM_001609.4(ACADSB):c.356del (p.Leu119fs)
NM_001609.4(ACADSB):c.369C>T (p.Leu123=)
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.45A>C (p.Leu15=) rs564497027
NM_001609.4(ACADSB):c.511-8A>G
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.653dup (p.Val219fs) rs755014798
NM_001609.4(ACADSB):c.6G>A (p.Glu2=)
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.808-18G>A
NM_001609.4(ACADSB):c.878dup (p.Gly293_Arg294insTer)
NM_001609.4(ACADSB):c.8G>A (p.Gly3Asp)
NM_001609.4(ACADSB):c.8G>C (p.Gly3Ala)
NM_001609.4(ACADSB):c.900+7C>G rs2133484739
NM_001609.4(ACADSB):c.901-11T>G
NM_001609.4(ACADSB):c.901-2A>G
NM_001609.4(ACADSB):c.939T>C (p.Ile313=)
NM_001609.4(ACADSB):c.958A>T (p.Ile320Leu) rs1554873785

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