List of variants reported as likely benign for Bardet-Biedl syndrome 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.1020C>G (p.Ser340=)	rs35209408	0.00470
NM_024649.5(BBS1):c.479+20T>C	rs756451521	0.00010
NM_024649.5(BBS1):c.54G>A (p.Glu18=)	rs761128852	0.00009
NM_024649.5(BBS1):c.1773G>A (p.Ala591=)	rs147783319	0.00005
NM_024649.5(BBS1):c.1474-14C>T	rs369972079	0.00004
NM_024649.5(BBS1):c.1485T>C (p.Leu495=)	rs373894194	0.00003
NM_024649.5(BBS1):c.684C>T (p.Leu228=)	rs764202615	0.00003
NM_024649.5(BBS1):c.606C>T (p.Thr202=)	rs372141621	0.00002
NM_024649.5(BBS1):c.1470C>T (p.Ala490=)	rs772427832	0.00001
NM_024649.5(BBS1):c.1554G>T (p.Leu518=)	rs760568652	0.00001
NM_024649.5(BBS1):c.1776C>T (p.Ala592=)	rs1489468740	0.00001
NM_024649.5(BBS1):c.33C>A (p.Ala11=)	rs1336755113	0.00001
NM_024649.5(BBS1):c.432+17G>C	rs752185178	0.00001
NM_024296.5(CCDC28B):c.462G>A (p.Glu154=)	rs6697820
NM_024649.5(BBS1):c.830+12del	rs1343720111

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