ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 2 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.117G>C (p.Lys39Asn) rs755877218
NM_031885.5(BBS2):c.118-2A>G
NM_031885.5(BBS2):c.365del (p.Ala122fs) rs1964569500

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