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

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859 0.00004
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu) rs778431173 0.00001
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu) rs28938468 0.00001
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)
NC_000001.10:g.[5910699_6038368dup;6051187_6158763dup]
NM_031885.5(BBS2):c.1528G>T (p.Val510Phe)
NM_176824.3(BBS7):c.1677-490_1804del rs1578522416
NM_176824.3(BBS7):c.68T>G (p.Leu23Arg) rs1727380420

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