ClinVar Miner

List of variants reported as pathogenic for Pierre Robin syndrome associated with collagen disease by Center for Medical Genetics Ghent,University of Ghent

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_001844.5(COL2A1):c.1191_1199dup (p.Ser400_Gly402dup) rs672601355
NM_001844.5(COL2A1):c.3357_3358insCT (p.Glu1120fs) rs672601354

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