ClinVar Miner

List of variants in gene combination ACAD9, CFAP92 reported as uncertain significance for acyl-CoA dehydrogenase 9 deficiency

Included ClinVar conditions (1):
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001394090.1(CFAP92):c.3280+2171G>A rs530217617 0.00093
NM_014049.5(ACAD9):c.1801G>A (p.Val601Met) rs149595527 0.00022
NM_001394090.1(CFAP92):c.3280+2291G>A rs189130789 0.00018
NM_001394090.1(CFAP92):c.3280+2008C>T rs549991044 0.00016
NM_001394090.1(CFAP92):c.3281-2366T>G rs367762859 0.00014
NM_001394090.1(CFAP92):c.3280+2013C>T rs765999383 0.00012
NM_014049.5(ACAD9):c.1634C>G (p.Ala545Gly) rs375541221 0.00009
NM_014049.5(ACAD9):c.1664G>A (p.Arg555His) rs200134546 0.00007
NM_014049.5(ACAD9):c.1650C>G (p.Ala550=) rs559422558 0.00005
NM_014049.5(ACAD9):c.1684G>A (p.Asp562Asn) rs547697115 0.00004
NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys) rs1057523761 0.00003
NM_001394090.1(CFAP92):c.3280+2308G>A rs758867335 0.00002
NM_014049.5(ACAD9):c.1646G>A (p.Arg549Gln) rs750899715 0.00001
NM_014049.5(ACAD9):c.1705A>C (p.Asn569His) rs769529395 0.00001
NM_001394090.1(CFAP92):c.3281-493A>G rs764208038
NM_014049.5(ACAD9):c.1715G>A (p.Cys572Tyr) rs778558550
NM_014049.5(ACAD9):c.1798_1801del (p.Lys600fs) rs917547961

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