ClinVar Miner

List of variants in gene BBS4 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NC_000015.9:g.(?_72978559)_(72978602_?)del
NC_000015.9:g.(?_73002021)_(73004668_?)del
NC_000015.9:g.(?_73007612)_(73009211_?)del
NM_033028.4(BBS4):c.157-?_220+?del
NM_033028.4:r.[118_261del;118_373del]
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu) rs28938468
NM_033028.5(BBS4):c.1226del (p.Ser409fs) rs886039800
NM_033028.5(BBS4):c.157-2A>G rs113994192
NM_033028.5(BBS4):c.157-3C>G rs1567412639
NM_033028.5(BBS4):c.172C>T (p.Gln58Ter) rs886039802
NM_033028.5(BBS4):c.220+1G>C rs113994190
NM_033028.5(BBS4):c.341del (p.Leu114fs) rs750258633
NM_033028.5(BBS4):c.406-2A>C rs113994191
NM_033028.5(BBS4):c.406-2A>G rs113994191
NM_033028.5(BBS4):c.513T>A (p.Tyr171Ter) rs367882912
NM_033028.5(BBS4):c.638T>A (p.Leu213Ter) rs1060503692
NM_033028.5(BBS4):c.657del (p.Lys220fs) rs1567427651
NM_033028.5(BBS4):c.712-1G>A rs377031435
NM_033028.5(BBS4):c.76+1G>T rs1465437164
NM_033028.5(BBS4):c.77-216del rs113994189
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) rs775710800
NM_033028.5(BBS4):c.884G>C (p.Arg295Pro) rs121434632
NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter) rs770891152

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