ClinVar Miner

List of variants in gene BBS7 reported as likely pathogenic for Bardet-Biedl syndrome

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Total variants: 6
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HGVS dbSNP
NM_176824.3(BBS7):c.1371+1G>A rs1578537379
NM_176824.3(BBS7):c.1677-490_1804del rs1578522416
NM_176824.3(BBS7):c.1786+1G>T rs1560638613
NM_176824.3(BBS7):c.1786G>A (p.Glu596Lys) rs1233058112
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs) rs672601379
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001

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