ClinVar Miner

List of variants studied for medium chain acyl-CoA dehydrogenase deficiency by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_000016.6(ACADM):c.387+32C>G rs2153126 0.30601
NM_000016.6(ACADM):c.216+10T>C rs2275378 0.30596
NM_000016.6(ACADM):c.469-22C>A rs12127402 0.25202
NM_000016.6(ACADM):c.31-32C>G rs7524467 0.23867
NM_000016.6(ACADM):c.1161A>G (p.Val387=) rs1061337 0.23824
NM_000016.6(ACADM):c.-362T>C rs1251076 0.12826
NM_000016.6(ACADM):c.-34T>C rs59932454 0.05213
NM_000016.6(ACADM):c.119-20T>C rs74090724 0.05208
NM_000016.6(ACADM):c.351A>C (p.Thr117=) rs74090726 0.05204
NM_000016.6(ACADM):c.-401G>A rs114005461 0.04873
NM_000016.6(ACADM):c.-142C>G rs61124994 0.04520
NM_000016.6(ACADM):c.31-73T>C rs142795930 0.02211
NM_000016.6(ACADM):c.489T>G (p.Pro163=) rs78392995 0.02136
NM_000016.6(ACADM):c.900C>T (p.Thr300=) rs17097429 0.01131
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_000016.6(ACADM):c.387+40G>A rs187510227 0.00241
NM_000016.6(ACADM):c.469-9A>G rs181322317 0.00223
NM_000016.6(ACADM):c.468+71T>C rs571856182 0.00198
NM_000016.6(ACADM):c.678A>G (p.Ala226=) rs2229249 0.00108
NM_000016.6(ACADM):c.994C>T (p.Leu332=) rs138098371 0.00093
NM_000016.6(ACADM):c.645T>A (p.Ala215=) rs147395095 0.00079
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_000016.6(ACADM):c.666C>A (p.Phe222Leu) rs139457557 0.00051
NM_000016.6(ACADM):c.468+62C>T rs875989870 0.00019
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly) rs201375579 0.00017
NM_000016.6(ACADM):c.508G>T (p.Ala170Ser) rs763613689 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000016.6(ACADM):c.210T>G (p.Thr70=) rs778891510 0.00010
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.1265A>T (p.Ter422Leu) rs200376609 0.00006
NM_000016.6(ACADM):c.131A>G (p.Gln44Arg) rs751647383 0.00006
NM_000016.6(ACADM):c.582C>T (p.Asn194=) rs778535261 0.00006
NM_000016.6(ACADM):c.426G>A (p.Lys142=) rs565131848 0.00004
NM_000016.6(ACADM):c.960A>G (p.Ser320=) rs138728545 0.00004
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter) rs148207467 0.00003
NM_000016.6(ACADM):c.118+18T>A rs755405418 0.00003
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys) rs398123072 0.00003
NM_000016.6(ACADM):c.286G>C (p.Gly96Arg) rs886042055 0.00003
NM_000016.6(ACADM):c.407C>T (p.Ala136Val) rs750792245 0.00003
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys) rs778906552 0.00003
NM_000016.6(ACADM):c.657T>C (p.Phe219=) rs758331876 0.00003
NM_000016.6(ACADM):c.1125A>G (p.Ile375Met) rs201809827 0.00002
NM_000016.6(ACADM):c.233T>C (p.Ile78Thr) rs398123074 0.00002
NM_000016.6(ACADM):c.238A>G (p.Arg80Gly) rs758476299 0.00002
NM_000016.6(ACADM):c.244dup (p.Trp82fs) rs786204566 0.00002
NM_000016.6(ACADM):c.276A>G (p.Pro92=) rs1212443202 0.00002
NM_000016.6(ACADM):c.393G>A (p.Met131Ile) rs368773005 0.00002
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr) rs758111285 0.00002
NM_000016.6(ACADM):c.6A>C (p.Ala2=) rs752190688 0.00002
NM_000016.6(ACADM):c.709-13A>G rs746483754 0.00002
NM_000016.6(ACADM):c.984del (p.Met328fs) rs747610156 0.00002
NM_000016.6(ACADM):c.1019C>T (p.Ala340Val) rs886042054 0.00001
NM_000016.6(ACADM):c.1052C>T (p.Thr351Ile) rs766140986 0.00001
NM_000016.6(ACADM):c.1090A>G (p.Ile364Val) rs758973773 0.00001
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp) rs781424858 0.00001
NM_000016.6(ACADM):c.1194+1G>A rs769331400 0.00001
NM_000016.6(ACADM):c.1194+3A>G rs369945009 0.00001
NM_000016.6(ACADM):c.1216A>G (p.Ile406Val) rs1181589709 0.00001
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys) rs139686925 0.00001
NM_000016.6(ACADM):c.1238G>A (p.Arg413His) rs1337929727 0.00001
NM_000016.6(ACADM):c.125C>T (p.Thr42Ile) rs759997176 0.00001
NM_000016.6(ACADM):c.126C>T (p.Thr42=) rs765625793 0.00001
NM_000016.6(ACADM):c.195A>C (p.Ala65=) rs771649282 0.00001
NM_000016.6(ACADM):c.277G>A (p.Glu93Lys) rs752612962 0.00001
NM_000016.6(ACADM):c.296G>T (p.Gly99Val) rs370608001 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.362C>T (p.Thr121Ile) rs121434283 0.00001
NM_000016.6(ACADM):c.581A>G (p.Asn194Ser) rs1010454733 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.599+5G>A rs875989861 0.00001
NM_000016.6(ACADM):c.610T>C (p.Leu204=) rs776993753 0.00001
NM_000016.6(ACADM):c.661G>A (p.Gly221Arg) rs753627680 0.00001
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln) rs373852490 0.00001
NM_000016.6(ACADM):c.849+2T>C rs780737237 0.00001
NM_000016.6(ACADM):c.85C>T (p.Arg29Ter) rs745793409 0.00001
NM_000016.6(ACADM):c.92G>A (p.Arg31His) rs529894272 0.00001
NM_000016.6(ACADM):c.946-2A>C rs758753966 0.00001
NM_000016.6(ACADM):c.-257G>A rs17848068
NM_000016.6(ACADM):c.1010A>C (p.Tyr337Ser) rs1323513432
NM_000016.6(ACADM):c.1021G>A (p.Ala341Thr) rs1424545377
NM_000016.6(ACADM):c.1034A>T (p.Asp345Val) rs771978135
NM_000016.6(ACADM):c.1046G>T (p.Arg349Leu) rs760335676
NM_000016.6(ACADM):c.1087G>A (p.Asp363Asn) rs875989866
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs) rs387906297
NM_000016.6(ACADM):c.1114dup (p.Ala372fs) rs1057516278
NM_000016.6(ACADM):c.1159G>C (p.Val387Leu) rs1057518630
NM_000016.6(ACADM):c.118+114A>G rs875989868
NM_000016.6(ACADM):c.1184A>C (p.Lys395Thr) rs776312173
NM_000016.6(ACADM):c.1189dup (p.Tyr397fs) rs875989877
NM_000016.6(ACADM):c.15C>A (p.Phe5Leu) rs1024056446
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter) rs754833969
NM_000016.6(ACADM):c.217-2A>G rs1647169738
NM_000016.6(ACADM):c.235AGA[1] (p.Arg80del) rs1553122972
NM_000016.6(ACADM):c.241G>A (p.Ala81Thr) rs1448376709
NM_000016.6(ACADM):c.262A>T (p.Asn88Tyr) rs1647171392
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly) rs875989863
NM_000016.6(ACADM):c.353G>C (p.Gly118Ala) rs1647188699
NM_000016.6(ACADM):c.385G>T (p.Gly129Trp) rs886042076
NM_000016.6(ACADM):c.387+1G>A rs1057516983
NM_000016.6(ACADM):c.387+1del rs786204424
NM_000016.6(ACADM):c.431_434del (p.Lys144fs) rs1057517356
NM_000016.6(ACADM):c.449_452del (p.Thr150fs) rs786204642
NM_000016.6(ACADM):c.494C>T (p.Ala165Val) rs1260394550
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.6(ACADM):c.564G>A (p.Gln188=) rs1647481720
NM_000016.6(ACADM):c.576A>G (p.Ile192Met) rs1647482271
NM_000016.6(ACADM):c.577A>G (p.Thr193Ala) rs121434279
NM_000016.6(ACADM):c.579C>T (p.Thr193=) rs534575785
NM_000016.6(ACADM):c.592G>A (p.Ala198Thr) rs1647485086
NM_000016.6(ACADM):c.595A>G (p.Asn199Asp) rs1468901075
NM_000016.6(ACADM):c.622G>T (p.Asp208Tyr) rs983879715
NM_000016.6(ACADM):c.640C>G (p.Pro214Ala) rs1040699870
NM_000016.6(ACADM):c.708+1G>A rs1553124803
NM_000016.6(ACADM):c.708+6G>A rs958629659
NM_000016.6(ACADM):c.742A>G (p.Arg248Gly) rs875989867
NM_000016.6(ACADM):c.755T>G (p.Phe252Cys) rs780510026
NM_000016.6(ACADM):c.773C>T (p.Pro258Leu) rs1022879056
NM_000016.6(ACADM):c.843A>T (p.Arg281Ser) rs780504551
NM_000016.6(ACADM):c.866T>C (p.Val289Ala) rs1057520215
NM_000016.6(ACADM):c.907G>A (p.Ala303Thr) rs875989855
NM_000016.6(ACADM):c.946-2dup rs1648822448
NM_000016.6(ACADM):c.946-6T>G rs765793260
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter) rs1225471006

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