ClinVar Miner

List of variants reported as 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: 12
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HGVS dbSNP
NM_000060.2(BTD):c.[511G>A;1330G>C]
NM_000116.5(TAZ):c.310T>C (p.Phe104Leu) rs397515741
NM_000116.5(TAZ):c.700-1G>A rs397515747
NM_000116.5(TAZ):c.708_709TG[1] (p.Val237fs) rs727504394
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter) rs727504020
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457
NM_001081.3(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) rs369296618

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