ClinVar Miner

List of variants reported as likely pathogenic for classic organic aciduria by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter) rs397515738
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg) rs397515740
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val) rs727504431
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143
NM_001370658.1(BTD):c.-17+1G>A rs1057516440
NM_014362.4(HIBCH):c.809+1G>A rs143746450
NM_014362.4(HIBCH):c.852del (p.Leu284fs) rs1131692017
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs) rs797045105

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