List of variants studied for Bardet-Biedl syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00212
NM_006642.5(SDCCAG8):c.944T>C (p.Leu315Ser)	rs200294385	0.00009
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)	rs147030232	0.00003
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu)	rs1555202697	0.00001
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)	rs201196733	0.00001
NM_198428.3(BBS9):c.214del (p.Val72fs)	rs1384578916	0.00001
NM_001278293.3(ARL6):c.534A>G (p.Gln178=)
NM_024685.4(BBS10):c.1091del (p.Asn364fs)	rs727503818
NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs)	rs1389599028
NM_031885.5(BBS2):c.1690G>T (p.Ala564Ser)
NM_031885.5(BBS2):c.256_278dup (p.Val94fs)	rs2144193013
NM_176824.3(BBS7):c.1002del (p.Asn335fs)	rs762782183
NM_176824.3(BBS7):c.2137G>A (p.Asp713Asn)
NM_198428.3(BBS9):c.328G>A (p.Gly110Arg)

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