ClinVar Miner

List of variants reported for Very long chain acyl-CoA dehydrogenase deficiency by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 145
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.1605+6T>C rs17671352 0.56622
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) rs28934585 0.03462
NM_000018.4(ACADVL):c.128G>A (p.Gly43Asp) rs2230178 0.02763
NM_000018.4(ACADVL):c.1038G>A (p.Ala346=) rs8064573 0.02419
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe) rs2230179 0.02069
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180 0.00920
NM_000018.4(ACADVL):c.623-8C>T rs144996066 0.00919
NM_000018.4(ACADVL):c.636C>T (p.Ala212=) rs76547988 0.00560
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg) rs140566084 0.00391
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=) rs79125791 0.00254
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_000018.4(ACADVL):c.1828-4C>G rs184559206 0.00192
NM_000018.4(ACADVL):c.1678+23C>T rs147546456 0.00163
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg) rs139425622 0.00066
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=) rs146115467 0.00058
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=) rs150518187 0.00051
NM_000018.4(ACADVL):c.1077+15C>T rs202237278 0.00041
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) rs151254520 0.00038
NM_000018.4(ACADVL):c.1581G>A (p.Pro527=) rs149436747 0.00035
NM_000018.4(ACADVL):c.286G>A (p.Glu96Lys) rs139427392 0.00035
NM_000018.4(ACADVL):c.587C>T (p.Ala196Val) rs201370388 0.00034
NM_000018.4(ACADVL):c.1533-4T>A rs369986567 0.00026
NM_000018.4(ACADVL):c.121G>A (p.Ala41Thr) rs367705640 0.00021
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084 0.00014
NM_000018.4(ACADVL):c.1873C>G (p.Pro625Ala) rs377044444 0.00012
NM_000018.4(ACADVL):c.*8C>T rs370513576 0.00011
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala) rs904631654 0.00011
NM_000018.4(ACADVL):c.1005C>A (p.His335Gln) rs753624994 0.00009
NM_000018.4(ACADVL):c.114G>C (p.Arg38=) rs777380964 0.00009
NM_000018.4(ACADVL):c.1613G>A (p.Arg538Gln) rs201350598 0.00009
NM_000018.4(ACADVL):c.1733T>C (p.Met578Thr) rs375806217 0.00009
NM_000018.4(ACADVL):c.1803G>A (p.Met601Ile) rs201462718 0.00009
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile) rs775537775 0.00006
NM_000018.4(ACADVL):c.264C>T (p.Phe88=) rs147357106 0.00006
NM_000018.4(ACADVL):c.583A>G (p.Lys195Glu) rs199763196 0.00006
NM_000018.4(ACADVL):c.686G>A (p.Arg229Gln) rs777955007 0.00006
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln) rs147366714 0.00006
NM_000018.4(ACADVL):c.1754C>T (p.Ala585Val) rs374729641 0.00005
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser) rs765423779 0.00005
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168 0.00005
NM_000018.4(ACADVL):c.109C>T (p.Arg37Trp) rs536992268 0.00004
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866 0.00004
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp) rs771025937 0.00004
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser) rs200117742 0.00004
NM_000018.4(ACADVL):c.255T>C (p.Asp85=) rs201085520 0.00004
NM_000018.4(ACADVL):c.352G>A (p.Asp118Asn) rs543878973 0.00004
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105 0.00003
NM_000018.4(ACADVL):c.1182+1G>A rs113690956 0.00003
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) rs113994169 0.00003
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000018.4(ACADVL):c.1605+7G>A rs572010910 0.00003
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014 0.00003
NM_000018.4(ACADVL):c.1858G>A (p.Ala620Thr) rs965557488 0.00003
NM_000018.4(ACADVL):c.277+6G>T rs776422793 0.00003
NM_000018.4(ACADVL):c.298C>G (p.Gln100Glu) rs750675692 0.00003
NM_000018.4(ACADVL):c.992A>C (p.Lys331Thr) rs727503792 0.00003
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=) rs779458466 0.00002
NM_000018.4(ACADVL):c.1154G>A (p.Arg385Gln) rs772014118 0.00002
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689 0.00002
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln) rs138058572 0.00002
NM_000018.4(ACADVL):c.1366C>T (p.Arg456Cys) rs794727111 0.00002
NM_000018.4(ACADVL):c.1679-6G>A rs113994171 0.00002
NM_000018.4(ACADVL):c.340G>A (p.Glu114Lys) rs557260142 0.00002
NM_000018.4(ACADVL):c.519C>T (p.Gly173=) rs757830946 0.00002
NM_000018.4(ACADVL):c.709T>C (p.Cys237Arg) rs1189763523 0.00002
NM_000018.4(ACADVL):c.858G>A (p.Arg286=) rs531514327 0.00002
NM_000018.4(ACADVL):c.963C>T (p.Asn321=) rs568118142 0.00002
NM_000018.4(ACADVL):c.1037C>T (p.Ala346Val) rs1303150138 0.00001
NM_000018.4(ACADVL):c.1052C>A (p.Thr351Asn) rs796051911 0.00001
NM_000018.4(ACADVL):c.1079T>C (p.Val360Ala) rs1284063777 0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser) rs758928307 0.00001
NM_000018.4(ACADVL):c.117C>T (p.Pro39=) rs370883584 0.00001
NM_000018.4(ACADVL):c.1182+3G>T rs376281637 0.00001
NM_000018.4(ACADVL):c.1269G>A (p.Ser423=) rs765356942 0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016 0.00001
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter) rs794727113 0.00001
NM_000018.4(ACADVL):c.1360G>A (p.Asp454Asn) rs1419606204 0.00001
NM_000018.4(ACADVL):c.138+2T>C rs1057516817 0.00001
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170 0.00001
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln) rs398123083 0.00001
NM_000018.4(ACADVL):c.1494T>G (p.Ala498=) rs756867868 0.00001
NM_000018.4(ACADVL):c.1534C>T (p.Arg512Trp) rs371316167 0.00001
NM_000018.4(ACADVL):c.1552G>A (p.Gly518Ser) rs374507980 0.00001
NM_000018.4(ACADVL):c.1575C>A (p.Val525=) rs745996278 0.00001
NM_000018.4(ACADVL):c.1599C>T (p.Gly533=) rs779770406 0.00001
NM_000018.4(ACADVL):c.1612C>T (p.Arg538Trp) rs192904909 0.00001
NM_000018.4(ACADVL):c.1678+4A>T rs1057518417 0.00001
NM_000018.4(ACADVL):c.1807dup (p.Cys603fs) rs1555529088 0.00001
NM_000018.4(ACADVL):c.1825G>A (p.Glu609Lys) rs398123086 0.00001
NM_000018.4(ACADVL):c.1964T>A (p.Phe655Tyr) rs377659973 0.00001
NM_000018.4(ACADVL):c.374T>C (p.Leu125Pro) rs1416443472 0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807 0.00001
NM_000018.4(ACADVL):c.62+5G>A rs1299140180 0.00001
NM_000018.4(ACADVL):c.628A>C (p.Thr210Pro) rs775400380 0.00001
NM_000018.4(ACADVL):c.63-2A>C rs1555527513 0.00001
NM_000018.4(ACADVL):c.707C>T (p.Pro236Leu) rs1336637427 0.00001
NM_000018.4(ACADVL):c.715A>G (p.Lys239Glu) rs776331587 0.00001
NM_000018.4(ACADVL):c.725C>T (p.Thr242Ile) rs769631635 0.00001
NM_000018.4(ACADVL):c.753-2A>C rs398123092 0.00001
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371 0.00001
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs) rs753108198 0.00001
NM_000018.4(ACADVL):c.950T>C (p.Val317Ala) rs398123095 0.00001
NM_000018.4(ACADVL):c.95G>A (p.Arg32Gln) rs754806489 0.00001
NM_000018.4(ACADVL):c.1007T>A (p.Ile336Asn) rs1431769044
NM_000018.4(ACADVL):c.103_112del (p.Pro35fs) rs1329022268
NM_000018.4(ACADVL):c.1052C>T (p.Thr351Ile) rs796051911
NM_000018.4(ACADVL):c.1077+2T>C rs1057516370
NM_000018.4(ACADVL):c.1078-5T>G rs1266629718
NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln) rs118204015
NM_000018.4(ACADVL):c.1183-7A>G rs750441118
NM_000018.4(ACADVL):c.1268C>T (p.Ser423Leu) rs1451455641
NM_000018.4(ACADVL):c.1269+1G>A rs773401248
NM_000018.4(ACADVL):c.138+2dup rs1555527548
NM_000018.4(ACADVL):c.138+5G>A rs2071124642
NM_000018.4(ACADVL):c.1496G>C (p.Gly499Ala) rs764943140
NM_000018.4(ACADVL):c.1605+7G>C rs572010910
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro) rs201350598
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp) rs781613690
NM_000018.4(ACADVL):c.1678+3_1678+6del rs759135941
NM_000018.4(ACADVL):c.1730_1733dup (p.Met578fs) rs2071395559
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer) rs796051917
NM_000018.4(ACADVL):c.1835C>G (p.Ala612Gly) rs374898424
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter) rs1057520507
NM_000018.4(ACADVL):c.1922T>C (p.Leu641Ser) rs2071413884
NM_000018.4(ACADVL):c.343del rs387906249
NM_000018.4(ACADVL):c.368A>G (p.Asp123Gly) rs1131691301
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.495G>T (p.Glu165Asp) rs370169077
NM_000018.4(ACADVL):c.506T>C (p.Met169Thr) rs1382262076
NM_000018.4(ACADVL):c.62+1G>A rs2071111529
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) rs140629318
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer) rs1057516714
NM_000018.4(ACADVL):c.664G>C (p.Gly222Arg) rs398123091
NM_000018.4(ACADVL):c.678C>A (p.Ala226=) rs372114185
NM_000018.4(ACADVL):c.693T>A (p.Ser231=) rs77763289
NM_000018.4(ACADVL):c.753-27C>T rs374911841
NM_000018.4(ACADVL):c.799_802del (p.Val267fs) rs761204548
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del) rs769280599
NM_000018.4(ACADVL):c.932del (p.Phe311fs) rs764488310
NM_000018.4(ACADVL):c.956C>T (p.Ser319Leu) rs149467828
NM_000018.4(ACADVL):c.963C>A (p.Asn321Lys) rs568118142
NM_000018.4(ACADVL):c.996dup (p.Ala333fs) rs1057516843

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.