ClinVar Miner

List of variants in gene BBS1 reported as likely benign for Bardet-Biedl syndrome

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Total variants: 9
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NM_024649.5(BBS1):c.138A>G (p.Leu46=) rs1590754166
NM_024649.5(BBS1):c.243G>A (p.Pro81=) rs141429900
NM_024649.5(BBS1):c.253C>T (p.Leu85=) rs748727758
NM_024649.5(BBS1):c.360C>T (p.Pro120=) rs373756451
NM_024649.5(BBS1):c.54G>A (p.Glu18=) rs761128852
NM_024649.5(BBS1):c.57C>G (p.Ala19=) rs755026677
NM_024649.5(BBS1):c.616T>G (p.Leu206Val) rs146052054
NM_024649.5(BBS1):c.6C>T (p.Ala2=) rs143592479
NM_024649.5(BBS1):c.723+7G>A rs770220426

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