ClinVar Miner

List of variants in gene combination ACADVL, DLG4 reported by GeneDx

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001033859.2(ACADVL):c.-63_-49dup rs6145976 0.50677
NM_001270447.2(ACADVL):c.132-485G>A rs79809891 0.02982
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe) rs2230179 0.02069
NM_001270447.2(ACADVL):c.132-431C>T rs79281055 0.01064
NM_001270447.2(ACADVL):c.132-383A>G rs9915319 0.00409
NM_000018.4(ACADVL):c.-36A>G rs372592554 0.00243
NM_000018.3(ACADVL):c.-49_-48insGGGCGGGCAGGACGG rs1555527399
NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGA rs1555527399
NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGT rs1555527399
NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCTGGACGC rs2142958381
NM_000018.3(ACADVL):c.-49_-48insGGGCGTTCAGGACGC rs1158592071
NM_000018.3(ACADVL):c.-51_-49CG[2][1] rs2071102988
NM_001365.5(DLG4):c.119A>T (p.Asp40Val)
NM_001365.5(DLG4):c.67G>T (p.Ala23Ser) rs1014318240

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