List of variants reported as likely pathogenic for Bardet-Biedl syndrome 2; Retinitis pigmentosa 74

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)	rs121908177	0.00010
NM_031885.5(BBS2):c.1986dup (p.Asn663Ter)	rs1597001788	0.00001
NM_031885.5(BBS2):c.1649_1650del (p.Leu550fs)	rs750146549
NM_031885.5(BBS2):c.472del	rs587777826
NM_031885.5(BBS2):c.774del (p.Asn258fs)	rs777218224

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