ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 1 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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BBS1, 1-BP DEL, 1650C
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024649.5(BBS1):c.851del (p.Tyr284fs) rs587777830

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