ClinVar Miner

List of variants reported as pathogenic for brittle cornea syndrome 2 by Center for Medical Genetics Ghent, University of Ghent

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_018699.4(PRDM5):c.247C>T (p.Arg83Cys) rs761027478 0.00002
NM_018699.4(PRDM5):c.974del (p.Cys325fs) rs766853150 0.00001

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