ClinVar Miner

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

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_152384.3(BBS5):c.468A>G (p.Pro156=) rs200636409 0.00017
NM_152384.3(BBS5):c.209-19C>A rs564695479 0.00011
NM_152384.3(BBS5):c.861T>C (p.Asp287=) rs1321191223 0.00010
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.143-11T>C rs773551745 0.00007
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.208+15T>C rs1019098515 0.00004
NM_152384.3(BBS5):c.480A>G (p.Val160=) rs779349158 0.00004
NM_152384.3(BBS5):c.693T>C (p.Tyr231=) rs150178711 0.00004
NM_152384.3(BBS5):c.825G>A (p.Pro275=) rs554049177 0.00004
NM_152384.3(BBS5):c.600T>C (p.Ser200=) rs1229922724 0.00003
NM_152384.3(BBS5):c.462G>C (p.Leu154=) rs767240340 0.00002
NM_152384.3(BBS5):c.619-9T>C rs755143488 0.00002
NM_152384.3(BBS5):c.786A>C (p.Ile262=) rs769669565 0.00002
NM_152384.3(BBS5):c.792A>T (p.Gly264=) rs773030426 0.00002
NM_152384.3(BBS5):c.925-15C>T rs776117757 0.00002
NM_152384.3(BBS5):c.979T>C (p.Leu327=) rs371959839 0.00002
NM_152384.3(BBS5):c.276T>C (p.Thr92=) rs775970045 0.00001
NM_152384.3(BBS5):c.386+16A>G rs1454698956 0.00001
NM_152384.3(BBS5):c.523-11G>A rs756035013 0.00001
NM_152384.3(BBS5):c.633T>C (p.Ile211=) rs1245371466 0.00001
NM_152384.3(BBS5):c.675T>G (p.Ser225=) rs1299275211 0.00001
NM_152384.3(BBS5):c.681+9T>C rs751819870 0.00001
NM_152384.3(BBS5):c.888G>A (p.Thr296=) rs777702222 0.00001
NM_152384.3(BBS5):c.1005A>G (p.Gly335=)
NM_152384.3(BBS5):c.1023T>C (p.Ser341=) rs1488371231
NM_152384.3(BBS5):c.108C>A (p.Ser36=)
NM_152384.3(BBS5):c.120C>A (p.Thr40=)
NM_152384.3(BBS5):c.135A>G (p.Gly45=)
NM_152384.3(BBS5):c.142+19G>A
NM_152384.3(BBS5):c.142+3_142+10dup rs1476627714
NM_152384.3(BBS5):c.142+9A>G rs2105291758
NM_152384.3(BBS5):c.143-12G>C
NM_152384.3(BBS5):c.143-13TG[2]
NM_152384.3(BBS5):c.143-19T>C
NM_152384.3(BBS5):c.143-7C>T rs1574336588
NM_152384.3(BBS5):c.171T>C (p.Ile57=)
NM_152384.3(BBS5):c.174C>G (p.Leu58=) rs1683499085
NM_152384.3(BBS5):c.180C>T (p.His60=)
NM_152384.3(BBS5):c.189A>T (p.Ala63=)
NM_152384.3(BBS5):c.208+13G>T
NM_152384.3(BBS5):c.209-17T>C
NM_152384.3(BBS5):c.209-19C>T
NM_152384.3(BBS5):c.210T>C (p.Ser70=)
NM_152384.3(BBS5):c.219C>T (p.Tyr73=) rs2105294702
NM_152384.3(BBS5):c.237T>C (p.Ile79=)
NM_152384.3(BBS5):c.246G>A (p.Arg82=)
NM_152384.3(BBS5):c.255C>T (p.Asn85=)
NM_152384.3(BBS5):c.258+14A>G
NM_152384.3(BBS5):c.258+19A>G
NM_152384.3(BBS5):c.258+7C>G
NM_152384.3(BBS5):c.259-10_259-6dup
NM_152384.3(BBS5):c.259-12T>A
NM_152384.3(BBS5):c.259-13T>A
NM_152384.3(BBS5):c.259-7C>G
NM_152384.3(BBS5):c.259-8C>T
NM_152384.3(BBS5):c.342T>G (p.Val114=)
NM_152384.3(BBS5):c.345T>G (p.Pro115=)
NM_152384.3(BBS5):c.381A>T (p.Val127=)
NM_152384.3(BBS5):c.386+10T>C
NM_152384.3(BBS5):c.386+11A>G
NM_152384.3(BBS5):c.386+13T>C
NM_152384.3(BBS5):c.387-10T>G
NM_152384.3(BBS5):c.387-14del
NM_152384.3(BBS5):c.387-15_387-12del rs756793669
NM_152384.3(BBS5):c.387-18G>C
NM_152384.3(BBS5):c.387-4A>T
NM_152384.3(BBS5):c.399T>C (p.Thr133=)
NM_152384.3(BBS5):c.424T>C (p.Leu142=)
NM_152384.3(BBS5):c.477T>C (p.His159=)
NM_152384.3(BBS5):c.492A>C (p.Ile164=)
NM_152384.3(BBS5):c.522+10A>G
NM_152384.3(BBS5):c.522+8G>A
NM_152384.3(BBS5):c.523-4A>G
NM_152384.3(BBS5):c.531A>G (p.Leu177=) rs2105298185
NM_152384.3(BBS5):c.576T>C (p.Asn192=)
NM_152384.3(BBS5):c.60-11A>G
NM_152384.3(BBS5):c.60-14T>C
NM_152384.3(BBS5):c.60-17C>T
NM_152384.3(BBS5):c.60-19A>G rs2105291694
NM_152384.3(BBS5):c.60-19A>T
NM_152384.3(BBS5):c.60-7A>T
NM_152384.3(BBS5):c.60-9T>G
NM_152384.3(BBS5):c.618+10T>C
NM_152384.3(BBS5):c.618+11dup
NM_152384.3(BBS5):c.618+12C>A
NM_152384.3(BBS5):c.618+12C>T
NM_152384.3(BBS5):c.618+14_618+18del rs2105298276
NM_152384.3(BBS5):c.618+20T>A rs2105298279
NM_152384.3(BBS5):c.619-16_619-15del rs762885469
NM_152384.3(BBS5):c.619-19_619-14del rs776922529
NM_152384.3(BBS5):c.642A>G (p.Ser214=)
NM_152384.3(BBS5):c.681+10T>G
NM_152384.3(BBS5):c.681+13A>G
NM_152384.3(BBS5):c.681+15A>C
NM_152384.3(BBS5):c.681+15A>G rs1262881139
NM_152384.3(BBS5):c.681+19T>C
NM_152384.3(BBS5):c.681+8C>G
NM_152384.3(BBS5):c.682-16A>T
NM_152384.3(BBS5):c.682-20T>A
NM_152384.3(BBS5):c.682-5T>C rs1256635364
NM_152384.3(BBS5):c.682-6T>A
NM_152384.3(BBS5):c.682-7C>A
NM_152384.3(BBS5):c.682-9C>A
NM_152384.3(BBS5):c.708A>G (p.Lys236=)
NM_152384.3(BBS5):c.720G>A (p.Val240=)
NM_152384.3(BBS5):c.729A>T (p.Leu243=)
NM_152384.3(BBS5):c.789T>C (p.Phe263=)
NM_152384.3(BBS5):c.816+15A>T
NM_152384.3(BBS5):c.816+17G>A
NM_152384.3(BBS5):c.816+7T>C
NM_152384.3(BBS5):c.825G>T (p.Pro275=)
NM_152384.3(BBS5):c.828C>T (p.Leu276=)
NM_152384.3(BBS5):c.843C>T (p.Val281=)
NM_152384.3(BBS5):c.855A>G (p.Gln285=)
NM_152384.3(BBS5):c.867A>G (p.Glu289=) rs767142551
NM_152384.3(BBS5):c.873C>T (p.Asp291=) rs924567585
NM_152384.3(BBS5):c.885C>T (p.His295=) rs752240452
NM_152384.3(BBS5):c.894T>G (p.Ala298=)
NM_152384.3(BBS5):c.900+9C>A
NM_152384.3(BBS5):c.901-11T>G
NM_152384.3(BBS5):c.901-6T>C
NM_152384.3(BBS5):c.906T>C (p.Tyr302=)
NM_152384.3(BBS5):c.918C>A (p.Gly306=)
NM_152384.3(BBS5):c.924+11T>G
NM_152384.3(BBS5):c.924+12T>A
NM_152384.3(BBS5):c.924+16T>G
NM_152384.3(BBS5):c.925-19C>G
NM_152384.3(BBS5):c.960G>A (p.Leu320=)
NM_152384.3(BBS5):c.963G>A (p.Gly321=)
NM_152384.3(BBS5):c.966T>G (p.Leu322=) rs1683865980
NM_152384.3(BBS5):c.969A>C (p.Ala323=)
NM_152384.3(BBS5):c.999A>G (p.Leu333=)

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