ClinVar Miner

List of variants in gene combination BBS1, ZDHHC24 reported as likely pathogenic for Retinal dystrophy

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Total variants: 6
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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.1205T>C (p.Leu402Pro) rs767150997
NM_024649.5(BBS1):c.1473+2T>C rs1856699646
NM_024649.5(BBS1):c.1638C>A (p.Tyr546Ter) rs1856787758
NM_024649.5(BBS1):c.1682C>G (p.Ser561Ter) rs1856790811
NM_024649.5(BBS1):c.724-8_726del rs1856202628

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