List of variants studied for Bardet-Biedl syndrome 2 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 5

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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.646C>T (p.Arg216Ter)	rs121908180	0.00001
NM_031885.5(BBS2):c.1527+1G>A	rs2144138948
NM_031885.5(BBS2):c.313_314insCCC (p.Val105delinsAlaLeu)

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