ClinVar Miner

List of variants reported as pathogenic for brittle cornea syndrome 2 by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (1):
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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_018699.4(PRDM5):c.974del (p.Cys325fs) rs766853150 0.00001

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