ClinVar Miner

List of variants in gene BBS4 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_033028.5(BBS4):c.180A>G (p.Gln60=) rs114434361 0.00852
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_033028.5(BBS4):c.748G>A (p.Gly250Arg) rs34620165 0.00458
NM_033028.5(BBS4):c.1311C>G (p.Thr437=) rs945847885 0.00004
NM_033028.5(BBS4):c.1172C>T (p.Ala391Val) rs1419955498 0.00001
NM_033028.5(BBS4):c.1063G>C (p.Glu355Gln) rs1478448702

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