ClinVar Miner

List of variants in gene ACADVL reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 48
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HGVS dbSNP
NM_000018.3(ACADVL):c.878+5_878+8delGTGA rs886043503
NM_000018.4(ACADVL):c.*8del rs398123078
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg) rs398123079
NM_000018.4(ACADVL):c.1024T>C (p.Phe342Leu) rs1356652354
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866
NM_000018.4(ACADVL):c.1205C>T (p.Ala402Val) rs727503793
NM_000018.4(ACADVL):c.129T>A (p.Gly43=) rs727503789
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp) rs533055438
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) rs886043236
NM_000018.4(ACADVL):c.1345G>C (p.Glu449Gln) rs398123081
NM_000018.4(ACADVL):c.1366C>T (p.Arg456Cys) rs794727111
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His) rs794727112
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln) rs200771970
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg) rs139425622
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084
NM_000018.4(ACADVL):c.1711G>A (p.Gly571Arg) rs398123085
NM_000018.4(ACADVL):c.1733T>C (p.Met578Thr) rs375806217
NM_000018.4(ACADVL):c.1754C>T (p.Ala585Val) rs374729641
NM_000018.4(ACADVL):c.1825G>A (p.Glu609Lys) rs398123086
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000018.4(ACADVL):c.189A>G (p.Lys63=) rs727503790
NM_000018.4(ACADVL):c.271C>T (p.Pro91Ser) rs398123087
NM_000018.4(ACADVL):c.294G>C (p.Gln98His) rs794727695
NM_000018.4(ACADVL):c.322C>G (p.Pro108Ala) rs886043235
NM_000018.4(ACADVL):c.326T>A (p.Val109Glu) rs1555527815
NM_000018.4(ACADVL):c.385G>A (p.Glu129Lys) rs1402849815
NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser) rs398123088
NM_000018.4(ACADVL):c.427G>T (p.Gly143Cys) rs794727773
NM_000018.4(ACADVL):c.436G>C (p.Val146Leu) rs398123089
NM_000018.4(ACADVL):c.455G>A (p.Gly152Asp) rs794727772
NM_000018.4(ACADVL):c.495G>T (p.Glu165Asp) rs370169077
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791
NM_000018.4(ACADVL):c.542A>G (p.His181Arg) rs1425862331
NM_000018.4(ACADVL):c.575T>C (p.Phe192Ser) rs1555528189
NM_000018.4(ACADVL):c.605T>A (p.Leu202His) rs398123090
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro) rs398123090
NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro) rs140629318
NM_000018.4(ACADVL):c.640T>G (p.Phe214Val) rs1192969297
NM_000018.4(ACADVL):c.678C>A (p.Ala226=) rs372114185
NM_000018.4(ACADVL):c.713G>T (p.Gly238Val) rs886044100
NM_000018.4(ACADVL):c.787G>A (p.Ala263Thr) rs398123093
NM_000018.4(ACADVL):c.830_832AGA[1] (p.Lys278del) rs769280599
NM_000018.4(ACADVL):c.866G>A (p.Gly289Glu) rs778514103
NM_000018.4(ACADVL):c.950T>C (p.Val317Ala) rs398123095
NM_000018.4(ACADVL):c.992A>C (p.Lys331Thr) rs727503792

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