ClinVar Miner

List of variants in gene ACADS reported as likely pathogenic for not provided

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773 0.00020
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) rs121908003 0.00008
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) rs767774362 0.00006
NM_000017.4(ACADS):c.575C>T (p.Ala192Val) rs28940874 0.00006
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys) rs539219309 0.00006
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp) rs28940875 0.00004
NM_000017.4(ACADS):c.417G>C (p.Trp139Cys) rs149107232 0.00004
NM_000017.4(ACADS):c.815G>A (p.Arg272His) rs374726386 0.00003
NM_000017.4(ACADS):c.322G>A (p.Gly108Ser) rs117356004 0.00001
NM_000017.4(ACADS):c.326_328del (p.Cys109_Ala110delinsSer) rs1346829948 0.00001
NM_000017.4(ACADS):c.596C>T (p.Ala199Val) rs766579880 0.00001
NM_000017.4(ACADS):c.812G>T (p.Gly271Val) rs796051902 0.00001
NM_000017.4(ACADS):c.208C>T (p.Gln70Ter) rs753758429
NM_000017.4(ACADS):c.302C>T (p.Ala101Val) rs1001298373
NM_000017.4(ACADS):c.313A>T (p.Ile105Phe) rs767155955
NM_000017.4(ACADS):c.328G>A (p.Ala110Thr) rs780571371
NM_000017.4(ACADS):c.625-133A>T
NM_000017.4(ACADS):c.795+1G>A rs752978753
NM_000017.4(ACADS):c.974G>A (p.Arg325Gln) rs932525260
NM_000017.4(ACADS):c.989_990delinsAT (p.Arg330His) rs1555244280

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