ClinVar Miner

Variants in gene combination BBS1, ZDHHC24 with conflicting interpretations reported as "uncertain significance and "pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956 0.00002
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778 0.00001
NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg) rs1565287512
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_024649.5(BBS1):c.951+58C>T rs1856346961

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