List of variants studied for Bardet-Biedl syndrome by Counsyl

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)	rs121917777	0.00012
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)	rs786204444	0.00001
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs)	rs786204701
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)	rs768443448
NM_024649.5(BBS1):c.432+1G>A	rs587777829

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