ClinVar Miner

List of variants studied for acyl-CoA dehydrogenase 9 deficiency by Revvity Omics, Revvity

Included ClinVar conditions (1):
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_014049.5(ACAD9):c.453+8A>G rs199919500 0.00092
NM_014049.5(ACAD9):c.479A>C (p.Glu160Ala) rs145391132 0.00031
NM_014049.5(ACAD9):c.1801G>A (p.Val601Met) rs149595527 0.00022
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) rs150283105 0.00014
NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys) rs1057523761 0.00003
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys) rs149753643 0.00002
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp) rs753711253 0.00002
NM_014049.5(ACAD9):c.1240C>T (p.Arg414Cys) rs777282696 0.00001
NM_014049.5(ACAD9):c.1037T>G (p.Phe346Cys)
NM_014049.5(ACAD9):c.1429C>G (p.Arg477Gly)
NM_014049.5(ACAD9):c.1715G>A (p.Cys572Tyr) rs778558550
NM_014049.5(ACAD9):c.244+3A>G
NM_014049.5(ACAD9):c.293T>C (p.Leu98Ser)
NM_014049.5(ACAD9):c.359del (p.Phe120fs) rs863224844
NM_014049.5(ACAD9):c.55G>T (p.Gly19Cys)
NM_014049.5(ACAD9):c.754delinsAA (p.Gly252fs) rs2107653861
NM_014049.5(ACAD9):c.793A>G (p.Ile265Val)

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