ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome by Mendelics

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_024649.5(BBS1):c.118del (p.Cys40fs) rs1490351829
NM_024649.5(BBS1):c.1243del (p.Val415fs) rs1590772920
NM_024685.4(BBS10):c.1315del (p.Gln439fs) rs1592491950
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081
NM_031885.4(BBS2):c.1546C>T (p.Gln516Ter) rs1597012997
NM_031885.4(BBS2):c.401C>G (p.Pro134Arg) rs376306240

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