ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome 7 by OMIM

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Total variants: 3
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HGVS dbSNP
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del) rs587777836
NM_176824.3(BBS7):c.709_712del (p.Lys237fs) rs587777812
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001

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