ClinVar Miner

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

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Total variants: 5
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NM_176824.3(BBS7):c.125G>A (p.Gly42Glu) rs1221499782
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg)
NM_176824.3(BBS7):c.1891-2A>C rs1057519027
NM_176824.3(BBS7):c.719G>A (p.Gly240Asp) rs761403504
NM_176824.3(BBS7):c.87_88del (p.His29fs) rs1578577361

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