ClinVar Miner

List of variants reported as likely pathogenic for Bardet-Biedl syndrome by Molecular Diagnostics Laboratory, M Health: University of Minnesota

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_006642.3:c.1069_1356del
NM_024649.5(BBS1):c.1100T>A (p.Ile367Asn) rs1565286202

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