ClinVar Miner

List of variants studied for brittle cornea syndrome 2 by Center for Medical Genetics Ghent, University of Ghent

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_018699.4(PRDM5):c.106G>A (p.Gly36Arg) rs374583073 0.00005
NM_018699.4(PRDM5):c.247C>T (p.Arg83Cys) rs761027478 0.00002
NM_018699.4(PRDM5):c.974del (p.Cys325fs) rs766853150 0.00001
NM_018699.4(PRDM5):c.17T>G (p.Val6Gly) rs1725107158
NM_018699.4(PRDM5):c.1858del (p.His620fs) rs1734373037

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