ClinVar Miner

List of variants reported as likely pathogenic for classic organic aciduria by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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NM_001081.3(CUBN):c.3473G>A (p.Trp1158Ter) rs1564492988
NM_001081.3(CUBN):c.4921del (p.Tyr1641fs) rs1564443979
NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter)
NM_001081.3(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.3(CUBN):c.5549-2A>C rs1564435513
NM_001081.3(CUBN):c.6125-2A>G rs75386064
NM_001081.3(CUBN):c.9949C>T (p.Gln3317Ter) rs1564379463
NM_052845.4(MMAB):c.577G>C (p.Glu193Gln) rs749758687

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