ClinVar Miner

List of variants in gene combination BBS1, ZDHHC24 reported as pathogenic by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956 0.00002
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs) rs775769424 0.00001

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