ClinVar Miner

List of variants reported as uncertain significance for Very long chain acyl-CoA dehydrogenase deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386 0.00280
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00241
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala) rs150149784 0.00115
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00036
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile) rs775537775 0.00006
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln) rs147366714 0.00006
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) rs113994169 0.00003
NM_000018.4(ACADVL):c.1754C>T (p.Ala585Val) rs374729641 0.00003
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg) rs398123079 0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser) rs758928307 0.00001
NM_000018.4(ACADVL):c.1177A>G (p.Thr393Ala) rs199840831 0.00001
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp) rs771025937 0.00001
NM_000018.4(ACADVL):c.1540G>A (p.Gly514Arg) rs370282954 0.00001
NM_000018.4(ACADVL):c.1612C>T (p.Arg538Trp) rs192904909 0.00001
NM_000018.4(ACADVL):c.1913C>T (p.Ser638Phe) rs1210477732 0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791 0.00001
NM_000018.4(ACADVL):c.628A>C (p.Thr210Pro) rs775400380 0.00001
NM_000018.4(ACADVL):c.728T>A (p.Leu243His) rs772999007 0.00001
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly) rs749159573 0.00001
NM_000018.4(ACADVL):c.782T>C (p.Val261Ala) rs756069599 0.00001
NM_000018.4(ACADVL):c.785T>C (p.Phe262Ser) rs1597528061 0.00001
NM_000018.4(ACADVL):c.950T>C (p.Val317Ala) rs398123095 0.00001
NM_000018.4(ACADVL):c.1007T>A (p.Ile336Asn) rs1431769044
NM_000018.4(ACADVL):c.1022G>C (p.Arg341Thr) rs1064793382
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del) rs754325237
NM_000018.4(ACADVL):c.1182+5G>A rs2508330680
NM_000018.4(ACADVL):c.1382T>C (p.Phe461Ser) rs755432945
NM_000018.4(ACADVL):c.1384G>A (p.Glu462Lys) rs2071355499
NM_000018.4(ACADVL):c.1538C>G (p.Ala513Gly) rs766003820
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.1870G>C (p.Asp624His) rs1597541044
NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter) rs1555529186
NM_000018.4(ACADVL):c.1934G>T (p.Gly645Val)
NM_000018.4(ACADVL):c.1964T>C (p.Phe655Ser) rs377659973
NM_000018.4(ACADVL):c.272C>A (p.Pro91Gln) rs2071160066
NM_000018.4(ACADVL):c.277G>T (p.Val93Leu) rs768632138
NM_000018.4(ACADVL):c.335T>A (p.Phe112Tyr)
NM_000018.4(ACADVL):c.342+2dup
NM_000018.4(ACADVL):c.351C>G (p.Asn117Lys) rs779745734
NM_000018.4(ACADVL):c.358_360del (p.Ala120del) rs761449573
NM_000018.4(ACADVL):c.406C>G (p.Leu136Val) rs1460246415
NM_000018.4(ACADVL):c.493G>A (p.Glu165Lys) rs2071226145
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del) rs796051920
NM_000018.4(ACADVL):c.605T>A (p.Leu202His) rs398123090
NM_000018.4(ACADVL):c.614T>C (p.Leu205Pro) rs1597525633
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro) rs768975918
NM_000018.4(ACADVL):c.644G>A (p.Cys215Tyr) rs761405004
NM_000018.4(ACADVL):c.747G>C (p.Trp249Cys) rs141167669
NM_000018.4(ACADVL):c.770A>T (p.Asp257Val) rs2071264623
NM_000018.4(ACADVL):c.949G>A (p.Val317Met) rs1567565417

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