ClinVar Miner

List of variants reported as likely pathogenic for classic organic aciduria by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) rs727503795
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907
NM_000411.8(HLCS):c.1993C>T (p.Arg665Ter) rs146448211
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.82-1G>A rs1255179780

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