ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg) rs754579374 0.00004
NM_176824.3(BBS7):c.1786G>A (p.Glu596Lys) rs1233058112 0.00001
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro) rs889417696 0.00001
NC_000004.11:g.(?_122749645)_(122750373_?)del
NM_176824.3(BBS7):c.102+1G>T
NM_176824.3(BBS7):c.103-268_112del
NM_176824.3(BBS7):c.1305+1G>A
NM_176824.3(BBS7):c.1305+2T>A
NM_176824.3(BBS7):c.1306-1_1308del
NM_176824.3(BBS7):c.1371+1G>A rs1578537379
NM_176824.3(BBS7):c.1512-1G>A rs2149054421
NM_176824.3(BBS7):c.166-2A>G
NM_176824.3(BBS7):c.1677-490_1804del rs1578522416
NM_176824.3(BBS7):c.1786+1G>T rs1560638613
NM_176824.3(BBS7):c.1786+2T>C
NM_176824.3(BBS7):c.1891-2A>C rs1057519027
NM_176824.3(BBS7):c.688T>C (p.Trp230Arg)

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