ClinVar Miner

List of variants studied for Medium-chain acyl-coenzyme A dehydrogenase deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 86
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HGVS dbSNP
NM_000016.5(ACADM):c.*39G>A rs17848065
NM_000016.5(ACADM):c.*77C>T rs143911981
NM_000016.5(ACADM):c.-17C>G rs367734665
NM_000016.5(ACADM):c.-34T>C rs59932454
NM_000016.5(ACADM):c.-6_6delinsACCCCGAAGG (p.Met1fs) rs875989865
NM_000016.5(ACADM):c.1012C>T (p.Gln338Ter) rs796051896
NM_000016.5(ACADM):c.1012_1013insTAGAATGAGTTAC (p.Gln338delinsLeuGluTer) rs875989874
NM_000016.5(ACADM):c.1052C>T (p.Thr351Ile) rs766140986
NM_000016.5(ACADM):c.1057T>G (p.Tyr353Asp) rs875989856
NM_000016.5(ACADM):c.1087G>A (p.Asp363Asn) rs875989866
NM_000016.5(ACADM):c.1102_1105del (p.Ala369fs) rs387906297
NM_000016.5(ACADM):c.1115C>A (p.Ala372Asp) rs781424858
NM_000016.5(ACADM):c.1161A>G (p.Val387=) rs1061337
NM_000016.5(ACADM):c.118+114A>G rs875989868
NM_000016.5(ACADM):c.118+18T>A rs755405418
NM_000016.5(ACADM):c.118+60del rs796117827
NM_000016.5(ACADM):c.118+64del rs875989853
NM_000016.5(ACADM):c.1184A>C (p.Lys395Thr) rs776312173
NM_000016.5(ACADM):c.1189T>A (p.Tyr397Asn) rs759158371
NM_000016.5(ACADM):c.1189dup (p.Tyr397fs) rs875989877
NM_000016.5(ACADM):c.119-20T>C rs74090724
NM_000016.5(ACADM):c.1221_1222del (p.Arg408fs) rs875989860
NM_000016.5(ACADM):c.127G>A (p.Glu43Lys) rs147559466
NM_000016.5(ACADM):c.157C>T (p.Arg53Cys) rs398123072
NM_000016.5(ACADM):c.158G>A (p.Arg53His) rs754938068
NM_000016.5(ACADM):c.216+10T>C rs2275378
NM_000016.5(ACADM):c.238A>G (p.Arg80Gly) rs758476299
NM_000016.5(ACADM):c.250C>T (p.Leu84Phe) rs762114560
NM_000016.5(ACADM):c.295G>A (p.Gly99Arg) rs875989858
NM_000016.5(ACADM):c.296G>T (p.Gly99Val) rs370608001
NM_000016.5(ACADM):c.302G>A (p.Gly101Glu) rs875989862
NM_000016.5(ACADM):c.31-37C>T rs201590881
NM_000016.5(ACADM):c.31-73T>C rs142795930
NM_000016.5(ACADM):c.322_325del (p.Ile108fs) rs875989873
NM_000016.5(ACADM):c.346T>G (p.Cys116Gly) rs875989863
NM_000016.5(ACADM):c.347G>A (p.Cys116Tyr) rs875989859
NM_000016.5(ACADM):c.351A>C (p.Thr117=) rs74090726
NM_000016.5(ACADM):c.362C>T (p.Thr121Ile) rs121434283
NM_000016.5(ACADM):c.387+1del rs786204424
NM_000016.5(ACADM):c.388-3T>G rs764942250
NM_000016.5(ACADM):c.395C>G (p.Pro132Arg) rs875989854
NM_000016.5(ACADM):c.443G>A (p.Arg148Lys) rs778906552
NM_000016.5(ACADM):c.447G>T (p.Met149Ile) rs121434277
NM_000016.5(ACADM):c.449_452del (p.Thr150fs) rs786204642
NM_000016.5(ACADM):c.464T>C (p.Met155Thr) rs875989876
NM_000016.5(ACADM):c.468+62C>T rs875989870
NM_000016.5(ACADM):c.468+71T>C rs571856182
NM_000016.5(ACADM):c.469-1G>A rs875989869
NM_000016.5(ACADM):c.469-9A>G rs181322317
NM_000016.5(ACADM):c.489T>G (p.Pro163=) rs78392995
NM_000016.5(ACADM):c.503A>C (p.Asp168Ala) rs745844469
NM_000016.5(ACADM):c.508G>T (p.Ala170Ser) rs763613689
NM_000016.5(ACADM):c.50G>A (p.Arg17His) rs17848070
NM_000016.5(ACADM):c.526G>A (p.Ala176Thr) rs200754053
NM_000016.5(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.5(ACADM):c.558T>A (p.Asn186Lys) rs754359356
NM_000016.5(ACADM):c.580A>G (p.Asn194Asp) rs773677327
NM_000016.5(ACADM):c.583G>A (p.Gly195Arg) rs121434278
NM_000016.5(ACADM):c.599+1G>A rs866388216
NM_000016.5(ACADM):c.599+5G>A rs875989861
NM_000016.5(ACADM):c.600-18G>A rs370523609
NM_000016.5(ACADM):c.602A>G (p.Tyr201Cys) rs875989871
NM_000016.5(ACADM):c.609A>C (p.Leu203Phe) rs751829413
NM_000016.5(ACADM):c.661G>A (p.Gly221Arg) rs753627680
NM_000016.5(ACADM):c.678A>G (p.Ala226=) rs2229249
NM_000016.5(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000016.5(ACADM):c.728G>A (p.Arg243Gln) rs373852490
NM_000016.5(ACADM):c.742A>G (p.Arg248Gly) rs875989867
NM_000016.5(ACADM):c.755T>G (p.Phe252Cys) rs780510026
NM_000016.5(ACADM):c.757G>A (p.Glu253Lys) rs768884003
NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) rs201375579
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000016.5(ACADM):c.817_829del (p.Ala273fs) rs875989872
NM_000016.5(ACADM):c.881G>C (p.Arg294Thr) rs779759347
NM_000016.5(ACADM):c.907G>A (p.Ala303Thr) rs875989855
NM_000016.5(ACADM):c.926dup (p.Gly310fs) rs875989864
NM_000016.5(ACADM):c.928G>A (p.Gly310Arg) rs747268471
NM_000016.5(ACADM):c.984del (p.Met328fs) rs747610156
NM_000016.5(ACADM):c.985A>C (p.Lys329Gln) rs77931234
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter) rs754833969
NM_000016.6(ACADM):c.216+2T>C rs398123073
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_001286042.1(ACADM):c.10+3660_10+3666dup rs875989875
NM_001286044.1(ACADM):c.-100+1905AAG[2] rs875989857
NM_001286044.1(ACADM):c.-100+1907del rs777998984

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