ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome 1 by GeneReviews

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_001195306.1(BBIP1):c.173T>G (p.Leu58Ter) rs515726134
NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro) rs515726135
NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter) rs515726136

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