ClinVar Miner

List of variants in gene BBS5 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: 12
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HGVS dbSNP
BBS5, 8-BP DEL/7-BP INS, NT263
BBS5, LEU142TER
NM_152384.3(BBS5):c.123del (p.Gly42fs) rs1272140892
NM_152384.3(BBS5):c.166A>G (p.Arg56Gly) rs1559121920
NM_152384.3(BBS5):c.177G>A (p.Trp59Ter)
NM_152384.3(BBS5):c.209-2A>G rs1477098739
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser) rs121908581
NM_152384.3(BBS5):c.258+2T>C rs1559122157
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter) rs772757329
NM_152384.3(BBS5):c.413G>A (p.Arg138His) rs179363897
NM_152384.3(BBS5):c.522+3A>G rs587777828
NM_152384.3(BBS5):c.547A>G (p.Thr183Ala) rs121908582

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