ClinVar Miner

List of variants reported as likely pathogenic for Bardet-Biedl syndrome by Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_024649.5(BBS1):c.1110+3G>C rs762276925
NM_033028.5(BBS4):c.1106+2T>A rs886041464
NM_170784.2(MKKS):c.837del (p.Gly280fs) rs776004321

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