ClinVar Miner

List of variants in gene BBS4 reported as likely pathogenic for Bardet-Biedl syndrome

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
GRCh38/hg38 15q24.1(chr15:72708224-72714485)
GRCh38/hg38 15q24.1(chr15:72714229-72721948)
GRCh38/hg38 15q24.1(chr15:72714243-72720447)
NM_033028.5(BBS4):c.1106+2T>A rs886041464
NM_033028.5(BBS4):c.1248+1G>T
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596
NM_033028.5(BBS4):c.206_209CTAT[1] (p.Ile70fs)
NM_033028.5(BBS4):c.424G>A (p.Gly142Arg)
NM_033028.5(BBS4):c.626G>A (p.Gly209Glu)
NM_033028.5(BBS4):c.791G>T (p.Cys264Phe)
NM_033028.5(BBS4):c.830G>T (p.Gly277Val) rs749017489

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