List of variants studied for Bardet-Biedl syndrome by Mendelics

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_031885.5(BBS2):c.209G>A (p.Ser70Asn)	rs4784677	0.99534
NM_198428.3(BBS9):c.1329+1606C>T	rs6974593	0.97489
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)	rs35520756	0.03206
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)	rs151023718	0.00083
NM_033028.5(BBS4):c.1414A>G (p.Met472Val)	rs2277596	0.00034
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg)	rs376306240	0.00003
NM_024649.5(BBS1):c.118del (p.Cys40fs)	rs1490351829	0.00001
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)	rs758732081	0.00001
NM_152384.3(BBS5):c.209-1G>A	rs1172161975	0.00001
NM_001278293.3(ARL6):c.4G>T (p.Gly2Ter)	rs771628868
NM_024649.5(BBS1):c.1243del (p.Val415fs)	rs1590772920
NM_024685.4(BBS10):c.1315del (p.Gln439fs)	rs1592491950
NM_024685.4(BBS10):c.1418T>C (p.Val473Ala)	rs763473990
NM_031885.5(BBS2):c.1546C>T (p.Gln516Ter)	rs1597012997
NM_198428.3(BBS9):c.310del (p.Cys104fs)	rs747388658
NM_198428.3(BBS9):c.702+1G>A	rs2128325966

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