ClinVar Miner

List of variants in gene ACADS reported as pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665 0.00202
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144 0.00055
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys) rs140853839 0.00046
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773 0.00020
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys) rs28940872 0.00008
NM_000017.4(ACADS):c.1095G>T (p.Gln365His) rs368469075 0.00006
NM_000017.4(ACADS):c.973C>T (p.Arg325Trp) rs121908006 0.00006
NM_000017.4(ACADS):c.1112G>T (p.Gly371Val) rs796051905 0.00001
NM_000017.4(ACADS):c.820G>A (p.Gly274Ser) rs746368198 0.00001
NM_000017.4(ACADS):c.238del (p.Leu80fs) rs1064793612
NM_000017.4(ACADS):c.307GAG[1] (p.Glu104del) rs387906308
NM_000017.4(ACADS):c.319_321delinsTGC (p.Arg107Cys) rs1064795254
NM_000017.4(ACADS):c.369C>G (p.Tyr123Ter) rs749491616
NM_000017.4(ACADS):c.492_513del (p.Ala165fs) rs745833347
NM_000017.4(ACADS):c.682_683del (p.Glu228fs) rs786204691
NM_000017.4(ACADS):c.988_990delinsTGT (p.Arg330Cys) rs796051906

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