ClinVar Miner

List of variants in gene BBS7 studied for Retinal dystrophy

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_176824.3(BBS7):c.1002del (p.Asn335fs) rs762782183
NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter) rs878853352
NM_176824.3(BBS7):c.342-2A>G rs1560664459
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634

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