List of variants reported as uncertain significance for Bardet-Biedl syndrome 1 by Counsyl

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.1535G>A (p.Arg512His)	rs202205304	0.00006
NM_024649.5(BBS1):c.1110G>A (p.Pro370=)	rs183771956	0.00002
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln)	rs758139447	0.00002
NM_024649.5(BBS1):c.*10T>A	rs765633556	0.00001
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg)	rs761760689	0.00001
NM_024649.5(BBS1):c.1061A>G (p.Glu354Gly)	rs1555048530
NM_024649.5(BBS1):c.1631T>A (p.Leu544His)	rs1555050401
NM_024649.5(BBS1):c.1676_1678del (p.Gly559_Ile560delinsVal)	rs1555050422
NM_024649.5(BBS1):c.1695G>A (p.Lys565=)	rs1555050427
NM_024649.5(BBS1):c.1702G>A (p.Val568Met)	rs754300140
NM_024649.5(BBS1):c.1717C>T (p.Gln573Ter)	rs1450045618
NM_024649.5(BBS1):c.952G>A (p.Gly318Arg)	rs1555048487

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