ClinVar Miner

List of variants reported as likely pathogenic for classic organic aciduria by Institute of Human Genetics, Klinikum rechts der Isar

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.542-3C>G rs781795144
NM_000255.4(MMUT):c.1142G>T (p.Gly381Val) rs1554159942
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg)
NM_014362.4(HIBCH):c.212A>C (p.Gln71Pro) rs1553506164
NM_014362.4(HIBCH):c.830T>A (p.Val277Glu) rs1553499757
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del)
NM_025136.4(OPA3):c.254G>A (p.Gly85Asp) rs1599964721
NM_032861.4(SERAC1):c.91+6T>C rs1554265452

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