ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome by Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs) rs775769424
NM_031885.4(BBS2):c.1237C>T (p.Arg413Ter) rs147030232
NM_152384.3(BBS5):c.2T>A (p.Met1Lys) rs767822498
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327
NM_176824.3(BBS7):c.500_501insTATGAG (p.Gln168_Asp169insMetSer) rs1578564877

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