ClinVar Miner

List of variants studied for Brittle cornea syndrome 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_018699.4(PRDM5):c.248G>A (p.Arg83His) rs201945549 0.00012
NM_018699.4(PRDM5):c.300+17C>T rs376707809 0.00008
NM_018699.4(PRDM5):c.740C>T (p.Ser247Leu) rs187637689 0.00006

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