ClinVar Miner

List of variants in gene BBS1 reported by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp) rs199633103 0.00006
NM_024649.5(BBS1):c.88C>A (p.Pro30Thr) rs368510687 0.00004
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) rs193922709 0.00002
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444 0.00001
NM_024649.5(BBS1):c.46A>T (p.Ser16Cys) rs772917364
NM_024649.5(BBS1):c.48-1G>A rs751753112
NM_024649.5(BBS1):c.638A>G (p.Glu213Gly)
NM_024649.5(BBS1):c.641A>T (p.Asp214Val)
NM_024649.5(BBS1):c.661del (p.Leu221fs)
NM_024649.5(BBS1):c.667A>G (p.Thr223Ala)
NM_024649.5:c.(830+1_831-1)_(1110+1_1111-1)del

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