ClinVar Miner

List of variants in gene BBS5 studied for Bardet-Biedl syndrome 5

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp) rs143113298 0.00086
NM_152384.3(BBS5):c.468A>G (p.Pro156=) rs200636409 0.00017
NM_152384.3(BBS5):c.824C>T (p.Pro275Leu) rs376275481 0.00009
NM_152384.3(BBS5):c.523-18C>T rs201051397 0.00008
NM_152384.3(BBS5):c.60-3T>C rs201553380 0.00008
NM_152384.3(BBS5):c.593A>G (p.Asn198Ser) rs369075832 0.00007
NM_152384.3(BBS5):c.308G>A (p.Ser103Asn) rs567175904 0.00006
NM_152384.3(BBS5):c.516T>C (p.Ser172=) rs758562179 0.00006
NM_152384.3(BBS5):c.190T>C (p.Leu64=) rs777369461 0.00005
NM_152384.3(BBS5):c.143-1G>C rs1054138918 0.00004
NM_152384.3(BBS5):c.475C>T (p.His159Tyr) rs757525125 0.00004
NM_152384.3(BBS5):c.619-1G>C rs753234582 0.00004
NM_152384.3(BBS5):c.770A>G (p.Tyr257Cys) rs376537695 0.00004
NM_152384.3(BBS5):c.110T>C (p.Ile37Thr) rs370849006 0.00003
NM_152384.3(BBS5):c.668A>T (p.Glu223Val) rs775524491 0.00003
NM_152384.3(BBS5):c.203A>G (p.Asn68Ser) rs754978707 0.00001
NM_152384.3(BBS5):c.209-1G>A rs1172161975 0.00001
NM_152384.3(BBS5):c.209-2A>G rs1477098739 0.00001
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser) rs121908581 0.00001
NM_152384.3(BBS5):c.259-3C>T rs564412855 0.00001
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter) rs772757329 0.00001
NM_152384.3(BBS5):c.325A>G (p.Ile109Val) rs758307712 0.00001
NM_152384.3(BBS5):c.332C>T (p.Thr111Ile) rs375992092 0.00001
NM_152384.3(BBS5):c.472G>A (p.Glu158Lys) rs1683625962 0.00001
NM_152384.3(BBS5):c.60-10T>G rs1224093899 0.00001
NM_152384.3(BBS5):c.844G>A (p.Glu282Lys) rs759233586 0.00001
NM_152384.3(BBS5):c.900G>C (p.Val300=) rs757001492 0.00001
NM_152384.3(BBS5):c.92T>C (p.Ile31Thr) rs1395749164 0.00001
BBS5, 8-BP DEL/7-BP INS, NT263
NM_152384.3(BBS5):c.142+1del
NM_152384.3(BBS5):c.177G>A (p.Trp59Ter) rs767221160
NM_152384.3(BBS5):c.211G>A (p.Val71Ile) rs1397496181
NM_152384.3(BBS5):c.258+2T>C rs1559122157
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.387-3T>C
NM_152384.3(BBS5):c.420dup (p.Lys141Ter)
NM_152384.3(BBS5):c.425T>A (p.Leu142Ter) rs1574339529
NM_152384.3(BBS5):c.425T>G (p.Leu142Ter) rs1574339529
NM_152384.3(BBS5):c.522+3A>G rs587777828
NM_152384.3(BBS5):c.547A>G (p.Thr183Ala) rs121908582
NM_152384.3(BBS5):c.559_560insGA (p.Ile187fs) rs1683644409
NM_152384.3(BBS5):c.569A>C (p.His190Pro) rs755408078
NM_152384.3(BBS5):c.619-16_619-15del rs762885469
NM_152384.3(BBS5):c.709del (p.Lys236_Ile237insTer) rs1471916487
NM_152384.3(BBS5):c.791G>T (p.Gly264Val) rs1574342816
NM_152384.3(BBS5):c.898del (p.Val300fs) rs2105303591
NM_152384.3(BBS5):c.966dup (p.Ala323fs) rs1553529427
NM_152384.3:c.(?_-60)_(386+1_387-1)del

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