ClinVar Miner

List of variants in gene BBS2 studied for Bardet-Biedl syndrome

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 189
Download table as spreadsheet
HGVS dbSNP
BBS2, CYS210FS, TER246
GRCh38/hg38 16q13(chr16:56496014-56504285)
NC_000016.10:g.56520025G>A
NC_000016.10:g.56520070C>T
NC_000016.9:g.(56519651_56530879)_(56536720_56539861)del
NC_000016.9:g.(?_56518653)_(56545216_?)del
NM_031885.3(BBS2):c.-177C>T rs567188429
NM_031885.3(BBS2):c.-178C>T rs548915387
NM_031885.3(BBS2):c.-190G>C rs555974619
NM_031885.3(BBS2):c.-191G>T rs16964239
NM_031885.3(BBS2):c.-199A>T rs569642995
NM_031885.3(BBS2):c.-225C>T rs117744577
NM_031885.3(BBS2):c.-239G>A rs2303284
NM_031885.3(BBS2):c.-242T>C rs12446354
NM_031885.3(BBS2):c.1528_1539del12 (p.Val510_Trp513del) rs1555521575
NM_031885.4(BBS2):c.*13C>T rs141170836
NM_031885.4(BBS2):c.*316A>G rs17341965
NM_031885.4(BBS2):c.*91C>T rs148188874
NM_031885.4(BBS2):c.-133C>T rs886052152
NM_031885.4(BBS2):c.-137C>G rs77438708
NM_031885.4(BBS2):c.-146G>A rs886052153
NM_031885.4(BBS2):c.-147G>T rs886052154
NM_031885.4(BBS2):c.-161G>A rs886052155
NM_031885.4(BBS2):c.-22C>T rs528287127
NM_031885.4(BBS2):c.-40T>C rs115078074
NM_031885.4(BBS2):c.-42T>G rs78076550
NM_031885.4(BBS2):c.-67C>G rs886052151
NM_031885.4(BBS2):c.1015C>T (p.Arg339Ter) rs193922710
NM_031885.4(BBS2):c.1046T>G (p.Leu349Trp) rs752280639
NM_031885.4(BBS2):c.1062C>G (p.Asn354Lys) rs1567576202
NM_031885.4(BBS2):c.1081-1G>T rs1555522000
NM_031885.4(BBS2):c.109A>G (p.Thr37Ala) rs1284353332
NM_031885.4(BBS2):c.1104C>T (p.Asn368=) rs141731677
NM_031885.4(BBS2):c.1110T>C (p.Ala370=) rs148990271
NM_031885.4(BBS2):c.1118A>G (p.His373Arg) rs886052146
NM_031885.4(BBS2):c.111G>A (p.Thr37=) rs191867233
NM_031885.4(BBS2):c.1134A>G (p.Pro378=) rs185178790
NM_031885.4(BBS2):c.1152C>T (p.His384=) rs774493134
NM_031885.4(BBS2):c.118-16_118-13del rs758674101
NM_031885.4(BBS2):c.118-1G>C rs587777825
NM_031885.4(BBS2):c.118G>T (p.Val40Phe) rs886043059
NM_031885.4(BBS2):c.1207C>T (p.Arg403Cys) rs766873519
NM_031885.4(BBS2):c.1237C>T (p.Arg413Ter) rs147030232
NM_031885.4(BBS2):c.126T>G (p.Ile42Met)
NM_031885.4(BBS2):c.1284C>T (p.His428=)
NM_031885.4(BBS2):c.1380C>T (p.Phe460=) rs141046144
NM_031885.4(BBS2):c.1413A>C (p.Val471=) rs35294865
NM_031885.4(BBS2):c.1422G>A (p.Ser474=) rs117033008
NM_031885.4(BBS2):c.1437T>C (p.Pro479=)
NM_031885.4(BBS2):c.1438C>T (p.Arg480Ter) rs778090540
NM_031885.4(BBS2):c.1486A>G (p.Ile496Val) rs549070573
NM_031885.4(BBS2):c.1511C>T (p.Ala504Val) rs16957538
NM_031885.4(BBS2):c.1523A>C (p.Gln508Pro) rs115328064
NM_031885.4(BBS2):c.1527+12G>A rs376715521
NM_031885.4(BBS2):c.1546C>T (p.Gln516Ter)
NM_031885.4(BBS2):c.1608A>G (p.Thr536=)
NM_031885.4(BBS2):c.1659+3A>G rs6499838
NM_031885.4(BBS2):c.1662C>G (p.Ile554Met) rs774112668
NM_031885.4(BBS2):c.1705C>T (p.Gln569Ter) rs1555521501
NM_031885.4(BBS2):c.175C>T (p.Gln59Ter) rs121908176
NM_031885.4(BBS2):c.1770del (p.Phe590fs) rs193922711
NM_031885.4(BBS2):c.1780C>T (p.Arg594Ter) rs762047808
NM_031885.4(BBS2):c.1797+12C>T rs370960689
NM_031885.4(BBS2):c.1797+1G>A rs1555521489
NM_031885.4(BBS2):c.1814C>G (p.Ser605Ter) rs201063733
NM_031885.4(BBS2):c.1864C>T (p.Arg622Ter) rs201196733
NM_031885.4(BBS2):c.1885G>A (p.Glu629Lys) rs746505864
NM_031885.4(BBS2):c.1891G>A (p.Ala631Thr) rs771822557
NM_031885.4(BBS2):c.1894C>T (p.Arg632Cys) rs200021475
NM_031885.4(BBS2):c.1895G>C (p.Arg632Pro) rs138043021
NM_031885.4(BBS2):c.1902G>T (p.Met634Ile) rs886052145
NM_031885.4(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.4(BBS2):c.1910+9T>G rs751604858
NM_031885.4(BBS2):c.1911-1G>A rs1555520256
NM_031885.4(BBS2):c.1928G>A (p.Arg643His) rs532361142
NM_031885.4(BBS2):c.1946_1952del (p.Asp649fs) rs745951028
NM_031885.4(BBS2):c.1969G>T (p.Gly657Ter) rs1166717771
NM_031885.4(BBS2):c.2038C>T (p.Gln680Ter) rs1555520220
NM_031885.4(BBS2):c.2043_2058dup (p.Val687fs) rs1555520212
NM_031885.4(BBS2):c.2060-1G>T rs1555520142
NM_031885.4(BBS2):c.2079G>A (p.Gln693=) rs150797250
NM_031885.4(BBS2):c.2088T>C (p.Thr696=) rs886052144
NM_031885.4(BBS2):c.209= (p.Asn70=) rs4784677
NM_031885.4(BBS2):c.209A>G (p.Asn70Ser) rs4784677
NM_031885.4(BBS2):c.2107C>T (p.Arg703Ter) rs567573386
NM_031885.4(BBS2):c.2143C>T (p.Arg715Ter) rs1555520107
NM_031885.4(BBS2):c.2166G>C (p.Ter722Tyr) rs1555520101
NM_031885.4(BBS2):c.224T>G (p.Val75Gly) rs121908174
NM_031885.4(BBS2):c.235A>C (p.Thr79Pro) rs1387025330
NM_031885.4(BBS2):c.241G>T (p.Gly81Cys) rs750506474
NM_031885.4(BBS2):c.263del (p.Gly88fs) rs869025206
NM_031885.4(BBS2):c.266A>G (p.Tyr89Cys)
NM_031885.4(BBS2):c.30G>A (p.Leu10=)
NM_031885.4(BBS2):c.311A>C (p.Asp104Ala) rs121908179
NM_031885.4(BBS2):c.324_343del (p.Asn108fs) rs1555523964
NM_031885.4(BBS2):c.327G>A (p.Ser109=) rs770497817
NM_031885.4(BBS2):c.334T>C (p.Phe112Leu) rs772864503
NM_031885.4(BBS2):c.345+10A>G rs770249850
NM_031885.4(BBS2):c.345+5G>A rs1430976492
NM_031885.4(BBS2):c.358G>A (p.Ala120Thr) rs148808295
NM_031885.4(BBS2):c.365C>T (p.Ala122Val) rs17856449
NM_031885.4(BBS2):c.367A>G (p.Ile123Val) rs11373
NM_031885.4(BBS2):c.401C>G (p.Pro134Arg) rs376306240
NM_031885.4(BBS2):c.402del (p.Ala136fs) rs1368647604
NM_031885.4(BBS2):c.416G>T (p.Gly139Val) rs121908181
NM_031885.4(BBS2):c.471+1G>A rs1555523584
NM_031885.4(BBS2):c.471+3_471+4delinsCA rs1567582876
NM_031885.4(BBS2):c.471G>A (p.Thr157=) rs749983428
NM_031885.4(BBS2):c.472-10T>C
NM_031885.4(BBS2):c.472-2A>G rs137854887
NM_031885.4(BBS2):c.522T>A (p.Asp174Glu) rs767373822
NM_031885.4(BBS2):c.525A>G (p.Gly175=) rs34191306
NM_031885.4(BBS2):c.534+1G>T rs773862084
NM_031885.4(BBS2):c.534+7G>C rs886052149
NM_031885.4(BBS2):c.537T>A (p.Leu179=)
NM_031885.4(BBS2):c.55del (p.Val19fs) rs1555524593
NM_031885.4(BBS2):c.563del (p.Ile188fs) rs1367927635
NM_031885.4(BBS2):c.565C>T (p.Arg189Ter) rs1273181642
NM_031885.4(BBS2):c.58G>A (p.Ala20Thr) rs886052150
NM_031885.4(BBS2):c.612+12C>A rs77019529
NM_031885.4(BBS2):c.627T>C (p.Leu209=)
NM_031885.4(BBS2):c.627_628del (p.Cys210fs) rs773417074
NM_031885.4(BBS2):c.634A>G (p.Met212Val) rs886052148
NM_031885.4(BBS2):c.642C>T (p.Gly214=)
NM_031885.4(BBS2):c.646C>T (p.Arg216Ter) rs121908180
NM_031885.4(BBS2):c.661del (p.Leu221fs) rs770258677
NM_031885.4(BBS2):c.691A>G (p.Lys231Glu) rs754487754
NM_031885.4(BBS2):c.700C>T (p.Arg234Ter) rs779690256
NM_031885.4(BBS2):c.717+1G>A rs1047075022
NM_031885.4(BBS2):c.717+2T>G rs1555522893
NM_031885.4(BBS2):c.72C>G (p.Tyr24Ter) rs121908175
NM_031885.4(BBS2):c.730_732del (p.Ala244del) rs1171314440
NM_031885.4(BBS2):c.744T>C (p.His248=) rs186893286
NM_031885.4(BBS2):c.766G>A (p.Gly256Arg) rs886052147
NM_031885.4(BBS2):c.783A>C (p.Ile261=)
NM_031885.4(BBS2):c.78G>A (p.Gly26=) rs759629466
NM_031885.4(BBS2):c.805-20A>G rs41280892
NM_031885.4(BBS2):c.806T>G (p.Val269Gly) rs886039797
NM_031885.4(BBS2):c.814C>T (p.Arg272Ter) rs764164384
NM_031885.4(BBS2):c.823C>T (p.Arg275Ter) rs121908177
NM_031885.4(BBS2):c.837C>T (p.Val279=) rs748579225
NM_031885.4(BBS2):c.865A>G (p.Ile289Val) rs150384293
NM_031885.4(BBS2):c.86C>T (p.Pro29Leu) rs771211831
NM_031885.4(BBS2):c.870C>T (p.Ala290=)
NM_031885.4(BBS2):c.918_919dup (p.Cys307fs) rs1555522252
NM_031885.4(BBS2):c.940+1del rs746171104
NM_031885.4(BBS2):c.940del (p.Ile314fs) rs587777824
NM_031885.4(BBS2):c.941-1G>T rs777234811
NM_031885.4(BBS2):c.941-2A>C rs878962682
NM_031885.4(BBS2):c.943C>T (p.Arg315Trp) rs121908178
NM_031885.4(BBS2):c.944G>A (p.Arg315Gln) rs544773389
NM_031885.4(BBS2):c.950A>G (p.Tyr317Cys)
NM_031885.4(BBS2):c.984C>T (p.Leu328=)
NM_031885.4(BBS2):c.986T>C (p.Met329Thr) rs201146063
NM_031885.4(BBS2):c.98C>A (p.Ala33Asp) rs797045155
NM_031885.4(BBS2):c.995G>A (p.Ser332Asn)
NM_031885.5(BBS2):c.*34A>G
NM_031885.5(BBS2):c.-118C>T
NM_031885.5(BBS2):c.112G>A (p.Gly38Ser)
NM_031885.5(BBS2):c.1220C>T (p.Ser407Phe)
NM_031885.5(BBS2):c.1226-11C>T
NM_031885.5(BBS2):c.1297A>G (p.Ser433Gly)
NM_031885.5(BBS2):c.1397+7C>A
NM_031885.5(BBS2):c.1454C>T (p.Ala485Val)
NM_031885.5(BBS2):c.1469A>G (p.Asp490Gly)
NM_031885.5(BBS2):c.1486_1489del (p.Ile496fs)
NM_031885.5(BBS2):c.152A>G (p.His51Arg)
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser)
NM_031885.5(BBS2):c.1555C>G (p.Leu519Val)
NM_031885.5(BBS2):c.159T>G (p.Ser53Arg)
NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys)
NM_031885.5(BBS2):c.1666A>G (p.Ile556Val)
NM_031885.5(BBS2):c.1697A>G (p.Asp566Gly)
NM_031885.5(BBS2):c.1759C>T (p.Pro587Ser)
NM_031885.5(BBS2):c.1843dup (p.Ala615fs)
NM_031885.5(BBS2):c.184C>G (p.Leu62Val)
NM_031885.5(BBS2):c.1895G>A (p.Arg632His)
NM_031885.5(BBS2):c.1927C>T (p.Arg643Cys)
NM_031885.5(BBS2):c.1934T>C (p.Met645Thr)
NM_031885.5(BBS2):c.1982G>A (p.Arg661His)
NM_031885.5(BBS2):c.247T>C (p.Leu83=)
NM_031885.5(BBS2):c.408G>A (p.Ala136=)
NM_031885.5(BBS2):c.581A>G (p.Asp194Gly)
NM_031885.5(BBS2):c.603A>C (p.Thr201=)
NM_031885.5(BBS2):c.635T>C (p.Met212Thr)
NM_031885.5(BBS2):c.685T>C (p.Tyr229His)
NM_031885.5(BBS2):c.725A>G (p.Asn242Ser)
NM_031885.5(BBS2):c.774del (p.Asn258fs)
NM_031885.5(BBS2):c.983T>A (p.Leu328His)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.