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

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)	rs121908175	0.00003
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.565C>T (p.Arg189Ter)	rs1273181642	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.1705C>T (p.Gln569Ter)	rs1555521501

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