ClinVar Miner

List of variants reported as likely pathogenic for Bardet-Biedl syndrome by Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago

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Total variants: 15
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 11q13.2(chr11:66290130-66305022)
GRCh37/hg19 2p13.1(chr2:73617393-73789869)
GRCh38/hg38 11q13.2(chr11:66507369-66525103)
GRCh38/hg38 11q13.2(chr11:66520912-66526178)
GRCh38/hg38 11q13.2(chr11:66528892-66536798)
GRCh38/hg38 15q24.1(chr15:72708224-72714485)
GRCh38/hg38 15q24.1(chr15:72714229-72721948)
GRCh38/hg38 15q24.1(chr15:72714243-72720447)
GRCh38/hg38 16q13(chr16:56496014-56504285)
GRCh38/hg38 2q31.1(chr2:169498679-169508441)
GRCh38/hg38 3q11.2(chr3:97779512-97864516)
GRCh38/hg38 3q11.2(chr3:97790061-97794169)
GRCh38/hg38 9p21.2(chr9:27040565-27060992)
NM_176824.3(BBS7):c.1677-490_1804del rs1578522416

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