ClinVar Miner

List of variants in gene BBS4 reported as benign for Bardet-Biedl syndrome

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_033028.5(BBS4):c.*1G>C rs113678046
NM_033028.5(BBS4):c.*608G>T rs12898814
NM_033028.5(BBS4):c.-6G>A rs367543011
NM_033028.5(BBS4):c.1049A>G (p.Asn350Ser) rs150395094
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598
NM_033028.5(BBS4):c.1215C>G (p.Leu405=) rs3759869
NM_033028.5(BBS4):c.1223_1225dup (p.Asn408dup) rs752690768
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp) rs147202164
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596
NM_033028.5(BBS4):c.1440G>A (p.Thr480=) rs148682268
NM_033028.5(BBS4):c.1451-45T>C rs75847960
NM_033028.5(BBS4):c.17T>C (p.Val6Ala) rs113994185
NM_033028.5(BBS4):c.180A>G (p.Gln60=) rs114434361
NM_033028.5(BBS4):c.18C>T (p.Val6=) rs113994187
NM_033028.5(BBS4):c.208A>G (p.Ile70Val) rs142692981
NM_033028.5(BBS4):c.20C>T (p.Ala7Val) rs113994186
NM_033028.5(BBS4):c.24+8C>T rs200055760
NM_033028.5(BBS4):c.28dup (p.Thr10fs) rs113994184
NM_033028.5(BBS4):c.37C>T (p.Pro13Ser) rs151164191
NM_033028.5(BBS4):c.42A>G (p.Val14=) rs113994181
NM_033028.5(BBS4):c.748G>A (p.Gly250Arg) rs34620165
NM_033028.5(BBS4):c.76+19G>T rs4777527
NM_033028.5(BBS4):c.77-6G>A rs8033604
NM_033028.5(BBS4):c.8A>C (p.Glu3Ala) rs113994183
NM_033028.5(BBS4):c.906= (p.Phe302=) rs12914333
NM_033028.5(BBS4):c.906T>C (p.Phe302=) rs12914333
NM_033028.5(BBS4):c.91A>G (p.Ile31Val) rs113994182

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