ClinVar Miner

List of variants reported as pathogenic for classic organic aciduria by Elsea Laboratory,Baylor College of Medicine

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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NM_000255.4(MMUT):c.1218del (p.Asn407fs)
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter) rs761525156
NM_001370658.1(BTD):c.-148C>T rs774964227
NM_014362.4(HIBCH):c.763C>T (p.Arg255Ter)
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_032861.4(SERAC1):c.1126C>T (p.Gln376Ter) rs199632531

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