ClinVar Miner

List of variants in gene BBS5 reported as likely pathogenic for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_152384.3(BBS5):c.143-1G>C rs1054138918 0.00004
NM_152384.3(BBS5):c.209-2A>G rs1477098739 0.00001
NM_152384.3(BBS5):c.413G>A (p.Arg138His) rs179363897 0.00001
NM_152384.3(BBS5):c.817-1G>T rs1466289570 0.00001
NM_152384.3(BBS5):c.142+1G>T rs2105291750
NM_152384.3(BBS5):c.142+1del
NM_152384.3(BBS5):c.259-1G>A
NM_152384.3(BBS5):c.259-3C>G rs564412855
NM_152384.3(BBS5):c.303dup (p.Asn102Ter) rs1683515617
NM_152384.3(BBS5):c.386+1G>T rs1559122277
NM_152384.3(BBS5):c.532G>A (p.Gly178Arg) rs786205636
NM_152384.3(BBS5):c.60-2A>C
NM_152384.3(BBS5):c.681+1G>T
NM_152384.3(BBS5):c.817-1G>A rs1466289570
NM_152384.3(BBS5):c.82G>T (p.Glu28Ter)
NM_152384.3(BBS5):c.898del (p.Val300fs) rs2105303591
NM_152384.3(BBS5):c.966dup (p.Ala323fs) rs1553529427

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