ClinVar Miner

List of variants reported as pathogenic for classic organic aciduria by Myriad Women's Health, Inc.

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851

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