ClinVar Miner

List of variants reported as likely benign for Bardet-Biedl syndrome 1 by Genome Diagnostics Laboratory,VU University Medical Center Amsterdam

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299
NM_198428.3(BBS9):c.2632+9C>A rs148654647

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