ClinVar Miner

List of variants reported as likely benign for alpha-methylacyl-CoA racemase deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_014324.6(AMACR):c.*1070C>T rs16892064
NM_014324.6(AMACR):c.*1144A>G rs840380
NM_014324.6(AMACR):c.*1727G>T rs116333833
NM_014324.6(AMACR):c.*1804G>T rs116206502
NM_014324.6(AMACR):c.*1945A>G rs79880451
NM_014324.6(AMACR):c.*1961G>A rs113746028
NM_014324.6(AMACR):c.*617G>T rs12659370
NM_014324.6(AMACR):c.*753T>G rs140021599
NM_014324.6(AMACR):c.*963C>T rs6898962
NM_014324.6(AMACR):c.*976G>A rs150664086
NM_014324.6(AMACR):c.*982C>T rs16892066
NM_014324.6(AMACR):c.353G>A (p.Arg118Gln) rs16892150
NM_014324.6(AMACR):c.712C>T (p.Pro238Ser) rs9282594
NM_014324.6(AMACR):c.717G>T (p.Gln239His) rs34677
NM_014324.6(AMACR):c.782T>C (p.Met261Thr) rs3195678

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