ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by Department of Medical Genetics, Faculty of Medicine,Ege University

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter) rs869025205
NM_024649.5(BBS1):c.48-3C>G rs869025204
NM_024685.4(BBS10):c.1024dup (p.Ile342fs) rs869025210
NM_024685.4(BBS10):c.1547del (p.Thr516fs) rs869025211
NM_024685.4(BBS10):c.1856_1865del (p.Lys619fs) rs869025209
NM_031885.4(BBS2):c.263del (p.Gly88fs) rs869025206
NM_033028.5(BBS4):c.406-2A>G rs113994191
NM_176824.3(BBS7):c.949C>G (p.Leu317Val) rs869025207
NM_198428.3(BBS9):c.104_112+4del rs869025208

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