ClinVar Miner

List of variants in gene BBS7 reported as likely pathogenic by Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago

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Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_176824.3(BBS7):c.1677-490_1804del rs1578522416
NM_176824.3(BBS7):c.68T>G (p.Leu23Arg) rs1727380420

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