List of variants studied for Bardet-Biedl syndrome 1 by Myriad Genetics, Inc.

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00212
NM_024649.5(BBS1):c.1121C>G (p.Thr374Ser)	rs759275651	0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)	rs200688985	0.00001
NM_024649.5(BBS1):c.1009G>T (p.Glu337Ter)	rs1856358703
NM_024649.5(BBS1):c.1009del (p.Glu337fs)
NM_024649.5(BBS1):c.1143C>A (p.Tyr381Ter)	rs1021331909
NM_024649.5(BBS1):c.1198A>T (p.Lys400Ter)	rs1421044140
NM_024649.5(BBS1):c.1214_1215del (p.Thr405fs)
NM_024649.5(BBS1):c.1253del (p.Pro418fs)
NM_024649.5(BBS1):c.1498A>T (p.Lys500Ter)
NM_024649.5(BBS1):c.214A>T (p.Lys72Ter)	rs1856007963
NM_024649.5(BBS1):c.406C>T (p.Gln136Ter)	rs1856011738
NM_024649.5(BBS1):c.434dup (p.Asp145fs)
NM_024649.5(BBS1):c.700G>T (p.Glu234Ter)	rs35520756
NM_024649.5(BBS1):c.71T>A (p.Leu24Ter)	rs1855932058
NM_024649.5(BBS1):c.734_735del (p.Pro245fs)
NM_024649.5(BBS1):c.965G>A (p.Trp322Ter)	rs1856354695
NM_024649.5(BBS1):c.966G>A (p.Trp322Ter)

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