ClinVar Miner

List of variants reported as uncertain significance for Very long chain acyl-CoA dehydrogenase deficiency by Counsyl

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.1828-4C>G rs184559206 0.00192
NM_000018.4(ACADVL):c.1678+23C>T rs147546456 0.00163
NM_001270447.2(ACADVL):c.52A>G (p.Ile18Val) rs730880036 0.00071
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) rs151254520 0.00038
NM_000018.4(ACADVL):c.1533-4T>A rs369986567 0.00026
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083 0.00009
NM_000018.4(ACADVL):c.1733T>C (p.Met578Thr) rs375806217 0.00009
NM_000018.4(ACADVL):c.205-8C>G rs774353448 0.00007
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866 0.00004
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp) rs1085307648 0.00003
NM_000018.4(ACADVL):c.-72_-71insGAGGACGTGGGCGTG rs1555527381 0.00002
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=) rs779458466 0.00002
NM_000018.4(ACADVL):c.1183-15A>G rs765390290 0.00001
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met) rs149116708 0.00001
NM_000018.4(ACADVL):c.1360G>A (p.Asp454Asn) rs1419606204 0.00001
NM_000018.4(ACADVL):c.1825G>A (p.Glu609Lys) rs398123086 0.00001
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu) rs750043368 0.00001
NM_000018.4(ACADVL):c.278-8C>T rs1178133251 0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791 0.00001
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371 0.00001
NM_000018.3(ACADVL):c.-49_-48insGGGCACGCGGGCGTGCAGGACGC rs6145976
NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGCCGGCGTGCAGGACGC rs753389263
NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGT rs1555527399
NM_000018.3(ACADVL):c.-50_-49insTGGGCGTGCAGGACGCGGGCGTGCAGGACG rs1555527393
NM_000018.3(ACADVL):c.-52_-51insTGCGGGCGTGCAGGA rs1555527401
NM_000018.3(ACADVL):c.-65_-64insCGGGCGTGCAGGACG rs1555527385
NM_000018.4(ACADVL):c.1009_1011del (p.Leu337del) rs1315330884
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val) rs934797393
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del) rs754325237
NM_000018.4(ACADVL):c.1183-2dup rs1555528721
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) rs886043236
NM_000018.4(ACADVL):c.138+2dup rs1555527548
NM_000018.4(ACADVL):c.139-3C>T rs1555527630
NM_000018.4(ACADVL):c.1430G>A (p.Cys477Tyr) rs1555528803
NM_000018.4(ACADVL):c.1532G>C (p.Arg511Pro) rs200771970
NM_000018.4(ACADVL):c.1617T>C (p.Ala539=) rs1555528948
NM_000018.4(ACADVL):c.1679-5del rs1555528999
NM_000018.4(ACADVL):c.1864C>T (p.Gln622Ter) rs1555529172
NM_000018.4(ACADVL):c.1923G>C (p.Leu641Phe) rs1452402269
NM_000018.4(ACADVL):c.204+5G>A rs958328801
NM_000018.4(ACADVL):c.205-5C>G rs768537914
NM_000018.4(ACADVL):c.230T>C (p.Met77Thr) rs1555527718
NM_000018.4(ACADVL):c.331_339del (p.Arg111_Phe113del) rs1555527820
NM_000018.4(ACADVL):c.439C>T (p.Pro147Ser) rs1032857886
NM_000018.4(ACADVL):c.482C>T (p.Ala161Val) rs796051908
NM_000018.4(ACADVL):c.535G>T (p.Gly179Trp) rs796051909
NM_000018.4(ACADVL):c.578G>A (p.Gly193Asp) rs1220348903
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro) rs768975918
NM_000018.4(ACADVL):c.62+6T>C rs1555527495
NM_000018.4(ACADVL):c.640T>G (p.Phe214Val) rs1192969297
NM_000018.4(ACADVL):c.739A>G (p.Lys247Glu) rs387906253
NM_000018.4(ACADVL):c.759_761del (p.Gly254del) rs1555528346
NM_000018.4(ACADVL):c.898A>G (p.Met300Val) rs1026112888
NM_000018.4(ACADVL):c.944T>G (p.Val315Gly) rs1555528469
NM_001321075.3(DLG4):c.-27C>T rs1555526472
NM_001365.5(DLG4):c.159+435_159+439del rs1178274476
NM_001365.5(DLG4):c.159+439_159+444dup rs1258394272
NM_001365.5(DLG4):c.159+465C>T rs1555526671
NM_001365.5(DLG4):c.159+472G>A rs1555526667
NM_001365.5(DLG4):c.159+487G>A rs1237915800
NM_001365.5(DLG4):c.159+489GCTTCT[3] rs1555526655

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