ClinVar Miner

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

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_001195306.1(BBIP1):c.173T>G (p.Leu58Ter) rs515726134
NM_018848.3(MKKS):c.431_441del (p.Phe144fs) rs113994195
NM_018848.3(MKKS):c.873_876dup (p.Cys293fs) rs113994196
NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro) rs515726135
NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter) rs515726136
NM_024649.5(BBS1):c.-3_37del (p.Met1fs) rs113994178
NM_024649.5(BBS1):c.1340-2A>G rs113994180
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_033028.5(BBS4):c.157-2A>G rs113994192
NM_033028.5(BBS4):c.220+1G>C rs113994190
NM_033028.5(BBS4):c.406-2A>C rs113994191
NM_033028.5(BBS4):c.77-216del rs113994189

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