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

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Total variants: 25

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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.534+1G>T	rs773862084	0.00004
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)	rs147030232	0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)	rs121908179	0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)	rs121908175	0.00003
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)	rs762047808	0.00002
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter)	rs764164384	0.00002
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)	rs778090540	0.00001
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)	rs121908176	0.00001
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter)	rs201063733	0.00001
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)	rs201196733	0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)	rs567573386	0.00001
NM_031885.5(BBS2):c.563del (p.Ile188fs)	rs1367927635	0.00001
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter)	rs121908180	0.00001
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter)	rs779690256	0.00001
NM_031885.5(BBS2):c.717+1G>A	rs1047075022	0.00001
NM_031885.5(BBS2):c.940+1del	rs746171104	0.00001
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)	rs193922710
NM_031885.5(BBS2):c.1059dup (p.Asn354Ter)
NM_031885.5(BBS2):c.1705C>T (p.Gln569Ter)	rs1555521501
NM_031885.5(BBS2):c.263del (p.Gly88fs)	rs869025206
NM_031885.5(BBS2):c.402del (p.Ala136fs)	rs1368647604
NM_031885.5(BBS2):c.661del (p.Leu221fs)	rs770258677
NM_031885.5(BBS2):c.79A>C (p.Thr27Pro)

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