ClinVar Miner

List of variants reported as likely pathogenic for classic organic aciduria by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) rs727503795
NM_000019.4(ACAT1):c.730+2T>C rs398123096
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230
NM_000282.4(PCCA):c.1899+4_1899+7del rs794727334
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.82-1G>A rs1255179780
NM_015702.3(MMADHC):c.372+1G>T

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