ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 2 by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.1544del (p.Gly515fs) rs2144134987

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