ClinVar Miner

List of variants studied for Very long chain acyl-CoA dehydrogenase deficiency by Genome-Nilou Lab

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.478-106del rs370388543 0.61332
NM_000018.4(ACADVL):c.1605+6T>C rs17671352 0.56622
NM_000018.3(ACADVL):c.-63_-49dup rs6145976 0.50677
NM_000018.3(ACADVL):c.-64T>C rs77051465 0.00545
NM_000018.4(ACADVL):c.-36A>G rs372592554 0.00243
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00241
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg) rs139425622 0.00066
NM_000018.4(ACADVL):c.478-89T>C rs9646410 0.00013
NM_000018.4(ACADVL):c.1754C>T (p.Ala585Val) rs374729641 0.00003
NM_000018.4(ACADVL):c.963C>T (p.Asn321=) rs568118142 0.00002
NM_000018.4(ACADVL):c.1575C>A (p.Val525=) rs745996278 0.00001
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu) rs750043368 0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807 0.00001
NM_000018.4(ACADVL):c.964G>A (p.Val322Met) rs1257648581 0.00001
NM_000018.4(ACADVL):c.1215C>T (p.Asp405=) rs2071338251
NM_000018.4(ACADVL):c.1881G>A (p.Gln627=) rs931018661
NM_000018.4(ACADVL):c.259G>A (p.Val87Met) rs2142965839
NM_000018.4(ACADVL):c.441del (p.Ser148fs) rs2142969688
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000018.4(ACADVL):c.956C>T (p.Ser319Leu) rs149467828

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