ClinVar Miner

Variants in gene combination BBS1, ZDHHC24 with conflicting interpretations reported as "likely benign and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1020C>G (p.Ser340=) rs35209408 0.00470
NM_024649.5(BBS1):c.831-5C>T rs56177555 0.00285
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) rs150553044 0.00194
NM_024649.5(BBS1):c.1695+10G>A rs200276861 0.00029
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) rs201872547 0.00005

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