ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome by MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP

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Total variants: 6
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HGVS dbSNP
NM_024649.5(BBS1):c.1285dup (p.Arg429fs) rs1565287921
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter) rs1565809478
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer) rs1555202584
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_031885.4(BBS2):c.1062C>G (p.Asn354Lys) rs1567576202
NM_176824.3(BBS7):c.763A>T (p.Lys255Ter) rs1560658189

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