ClinVar Miner

List of variants studied for Peters plus syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_194318.4(B3GLCT):c.348T>C (p.His116=) rs4943266 0.96681
NM_194318.4(B3GLCT):c.1185-6C>G rs202096313 0.00055

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