ClinVar Miner

List of variants in gene combination ACADVL, DLG4 reported as uncertain significance for Very long chain acyl-CoA dehydrogenase deficiency

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000018.3(ACADVL):c.-64T>C rs77051465 0.00545
NM_000018.4(ACADVL):c.-36A>G rs372592554 0.00243
NM_001270447.2(ACADVL):c.52A>G (p.Ile18Val) rs730880036 0.00071
NM_000018.4(ACADVL):c.-72_-71insGAGGACGTGGGCGTG rs1555527381 0.00002
NM_000018.4(ACADVL):c.34C>T (p.Arg12Trp) rs769290349 0.00001
NM_000018.4(ACADVL):c.51C>T (p.Leu17=) rs376733533 0.00001
NM_000018.3(ACADVL):c.-132C>T rs886053371
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.11C>A (p.Ala4Asp) rs1019684161
NM_000018.4(ACADVL):c.13C>G (p.Arg5Gly) rs747672165
NM_000018.4(ACADVL):c.17T>C (p.Met6Thr)
NM_000018.4(ACADVL):c.18G>A (p.Met6Ile)
NM_000018.4(ACADVL):c.20C>A (p.Ala7Asp) rs2142959240
NM_000018.4(ACADVL):c.26G>C (p.Ser9Thr)
NM_000018.4(ACADVL):c.40C>G (p.Leu14Val)
NM_000018.4(ACADVL):c.56G>T (p.Gly19Val)
NM_000018.4(ACADVL):c.57C>G (p.Gly19=)
NM_000018.4(ACADVL):c.59G>A (p.Gly20Glu)
NM_000018.4(ACADVL):c.8C>T (p.Ala3Val)
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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