ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.952-1G>C rs1057516661
NM_024685.4(BBS10):c.1138dup (p.Arg380fs) rs1555202645
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter) rs898539189
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_025114.3(CEP290):c.6277delG (p.Val2093Serfs) rs771454167
NM_152384.3(BBS5):c.966dup (p.Ala323fs) rs1553529427
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.3(BBS12):c.787dup (p.Tyr263fs) rs1553941312

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