ClinVar Miner

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

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_176824.3(BBS7):c.125G>A (p.Gly42Glu) rs1221499782
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.1891-2A>C rs1057519027
NM_176824.3(BBS7):c.719G>A (p.Gly240Asp) rs761403504
NM_176824.3(BBS7):c.85_86CA[1] (p.His29fs) rs1578577361

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