ClinVar Miner

List of variants reported as uncertain significance for Bardet-Biedl syndrome 2 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_031885.5(BBS2):c.327G>A (p.Ser109=)	rs770497817	0.00001
NM_031885.5(BBS2):c.471G>A (p.Thr157=)	rs749983428	0.00001
NM_031885.5(BBS2):c.313_314insCCC (p.Val105delinsAlaLeu)

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