ClinVar Miner

Variants in gene ACADS with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_000017.4(ACADS):c.989G>A (p.Arg330His) rs199633532 0.00009
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.1130C>T (p.Pro377Leu) rs183161718 0.00001
NM_000017.4(ACADS):c.1A>G (p.Met1Val) rs1291226969 0.00001
NM_000017.4(ACADS):c.268G>A (p.Gly90Ser) rs121908005 0.00001
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr) rs202078273
NM_000017.4(ACADS):c.1195C>T (p.Arg399Trp) rs375931905
NM_000017.4(ACADS):c.323G>A (p.Gly108Asp) rs387906951
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro) rs777002501
NM_000017.4(ACADS):c.910dup (p.Leu304fs) rs1057516606
NM_000017.4(ACADS):c.989_990delinsAT (p.Arg330His) rs1555244280

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