List of variants reported as likely pathogenic for Bardet-Biedl syndrome 2 by Counsyl

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		ClinVar version:

Total variants: 29

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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.1237C>T (p.Arg413Ter)	rs147030232	0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)	rs121908179	0.00003
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)	rs762047808	0.00002
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.1946_1952del (p.Asp649fs)	rs745951028	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.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.1081-1G>T	rs1555522000
NM_031885.5(BBS2):c.1797+1G>A	rs1555521489
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs)	rs1555521379
NM_031885.5(BBS2):c.1911-1G>A	rs1555520256
NM_031885.5(BBS2):c.1969G>T (p.Gly657Ter)	rs1166717771
NM_031885.5(BBS2):c.2038C>T (p.Gln680Ter)	rs1555520220
NM_031885.5(BBS2):c.2060-1G>T	rs1555520142
NM_031885.5(BBS2):c.224T>G (p.Val75Gly)	rs121908174
NM_031885.5(BBS2):c.324_343del (p.Asn108fs)	rs1555523964
NM_031885.5(BBS2):c.471+1G>A	rs1555523584
NM_031885.5(BBS2):c.55del (p.Val19fs)	rs1555524593
NM_031885.5(BBS2):c.627_628del (p.Cys210fs)	rs773417074
NM_031885.5(BBS2):c.661del (p.Leu221fs)	rs770258677
NM_031885.5(BBS2):c.717+2T>G	rs1555522893
NM_031885.5(BBS2):c.918_919dup (p.Cys307fs)	rs1555522252
NM_031885.5(BBS2):c.941-1G>T	rs777234811
NM_031885.5(BBS2):c.941-2A>C	rs878962682

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