List of variants studied for Bardet-Biedl syndrome 2 by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)	rs138043021	0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)	rs121908177	0.00010
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)	rs121908176	0.00001
BBS2, CYS210FS, TER246
NM_031885.5(BBS2):c.118-1G>C	rs587777825
NM_031885.5(BBS2):c.224T>G (p.Val75Gly)	rs121908174
NM_031885.5(BBS2):c.416G>T (p.Gly139Val)	rs121908181
NM_031885.5(BBS2):c.472-2A>G	rs137854887
NM_031885.5(BBS2):c.940del (p.Ile314fs)	rs587777824

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