ClinVar Miner

List of variants in gene ACADM reported as likely pathogenic by Counsyl

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Gene type:
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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe) rs762114560 0.00007
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg) rs121434278 0.00007
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter) rs148207467 0.00003
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys) rs398123072 0.00003
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys) rs778906552 0.00003
NM_000016.6(ACADM):c.580A>G (p.Asn194Asp) rs773677327 0.00002
NM_000016.6(ACADM):c.617G>A (p.Arg206His) rs200724875 0.00002
NM_000016.6(ACADM):c.757G>A (p.Glu253Lys) rs768884003 0.00002
NM_000016.6(ACADM):c.984del (p.Met328fs) rs747610156 0.00002
NM_000016.6(ACADM):c.1150G>T (p.Glu384Ter) rs748110745 0.00001
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter) rs753928772 0.00001
NM_000016.6(ACADM):c.30+2T>C rs768596219 0.00001
NM_000016.6(ACADM):c.320T>C (p.Leu107Ser) rs746136472 0.00001
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr) rs875989859 0.00001
NM_000016.6(ACADM):c.599+1G>A rs866388216 0.00001
NM_000016.6(ACADM):c.599+2T>C rs148260275 0.00001
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) rs373715782 0.00001
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr) rs770273135 0.00001
NM_000016.6(ACADM):c.709-1G>A rs941714381 0.00001
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu) rs121434281 0.00001
NM_000016.6(ACADM):c.850-2A>G rs761317029 0.00001
NM_000016.6(ACADM):c.1045del (p.Arg349fs) rs1057516463
NM_000016.6(ACADM):c.1073del (p.Lys358fs) rs1057517411
NM_000016.6(ACADM):c.107_113dup (p.Ser38delinsArgIleTer) rs875989875
NM_000016.6(ACADM):c.1114dup (p.Ala372fs) rs1057516278
NM_000016.6(ACADM):c.118+1G>T rs113887538
NM_000016.6(ACADM):c.1195-1G>C rs1553127378
NM_000016.6(ACADM):c.1195-2A>T rs879234543
NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala) rs1462472677
NM_000016.6(ACADM):c.173_174del (p.Glu58fs) rs1057517179
NM_000016.6(ACADM):c.1A>G (p.Met1Val) rs1057516778
NM_000016.6(ACADM):c.216+1G>T rs1057516801
NM_000016.6(ACADM):c.224del (p.Val75fs) rs1057516480
NM_000016.6(ACADM):c.270_271del (p.Ile91fs) rs766173642
NM_000016.6(ACADM):c.286+2T>G rs1553122996
NM_000016.6(ACADM):c.387+1G>T rs1057516983
NM_000016.6(ACADM):c.387+1del rs786204424
NM_000016.6(ACADM):c.3G>C (p.Met1Ile) rs1553121887
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del) rs875989857
NM_000016.6(ACADM):c.437del (p.Leu146fs) rs749529577
NM_000016.6(ACADM):c.469-2A>C rs1553123857
NM_000016.6(ACADM):c.617G>T (p.Arg206Leu) rs200724875
NM_000016.6(ACADM):c.708+2T>G rs1553124805
NM_000016.6(ACADM):c.709-2A>C rs1553125211
NM_000016.6(ACADM):c.817_829del (p.Ala273fs) rs875989872
NM_000016.6(ACADM):c.826_828delinsCC (p.Ala276fs) rs1553125264
NM_000016.6(ACADM):c.843A>T (p.Arg281Ser) rs780504551
NM_000016.6(ACADM):c.926dup (p.Gly310fs) rs875989864
NM_000016.6(ACADM):c.949C>T (p.Gln317Ter) rs1057516564
NM_000016.6(ACADM):c.957_958del (p.Ser320fs) rs1057517103
NM_000016.6(ACADM):c.959C>A (p.Ser320Ter) rs1057516485
NM_000016.6(ACADM):c.977T>C (p.Met326Thr) rs786204631
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter) rs1225471006

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