ClinVar Miner

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

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Gene type:
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Total variants: 135
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HGVS dbSNP
GRCh38/hg38 16q13(chr16:56496014-56504285)
NC_000016.9:g.(56519651_56530879)_(56536720_56539861)del
NC_000016.9:g.(?_56518653)_(56545216_?)del
NM_031885.3(BBS2):c.-239G>A rs2303284
NM_031885.3(BBS2):c.-242T>C rs12446354
NM_031885.4(BBS2):c.-146G>A rs886052153
NM_031885.4(BBS2):c.1015C>T (p.Arg339Ter) rs193922710
NM_031885.4(BBS2):c.1062C>G (p.Asn354Lys) rs1567576202
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.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.1237C>T (p.Arg413Ter) rs147030232
NM_031885.4(BBS2):c.126T>G (p.Ile42Met) rs139945733
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=) rs747415803
NM_031885.4(BBS2):c.1438C>T (p.Arg480Ter) rs778090540
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.1608A>G (p.Thr536=) rs778892001
NM_031885.4(BBS2):c.1659+3A>G rs6499838
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.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.1894C>T (p.Arg632Cys) rs200021475
NM_031885.4(BBS2):c.1895G>C (p.Arg632Pro) rs138043021
NM_031885.4(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.4(BBS2):c.1953T>C (p.Asn651=) rs200621431
NM_031885.4(BBS2):c.2079G>A (p.Gln693=) rs150797250
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.224T>G (p.Val75Gly) rs121908174
NM_031885.4(BBS2):c.235A>C (p.Thr79Pro) rs1387025330
NM_031885.4(BBS2):c.266A>G (p.Tyr89Cys) rs560910758
NM_031885.4(BBS2):c.30G>A (p.Leu10=) rs1258834563
NM_031885.4(BBS2):c.311A>C (p.Asp104Ala) rs121908179
NM_031885.4(BBS2):c.327G>A (p.Ser109=) rs770497817
NM_031885.4(BBS2):c.345+10A>G rs770249850
NM_031885.4(BBS2):c.358G>A (p.Ala120Thr) rs148808295
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.471+3_471+4delinsCA rs1567582876
NM_031885.4(BBS2):c.472-10T>C rs138714256
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.537T>A (p.Leu179=) rs1450648224
NM_031885.4(BBS2):c.563del (p.Ile188fs) rs1367927635
NM_031885.4(BBS2):c.565C>T (p.Arg189Ter) rs1273181642
NM_031885.4(BBS2):c.612+12C>A rs77019529
NM_031885.4(BBS2):c.627T>C (p.Leu209=) rs752010652
NM_031885.4(BBS2):c.642C>T (p.Gly214=) rs141563594
NM_031885.4(BBS2):c.646C>T (p.Arg216Ter) rs121908180
NM_031885.4(BBS2):c.661del (p.Leu221fs) rs770258677
NM_031885.4(BBS2):c.700C>T (p.Arg234Ter) rs779690256
NM_031885.4(BBS2):c.72C>G (p.Tyr24Ter) rs121908175
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=) rs183982328
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.865A>G (p.Ile289Val) rs150384293
NM_031885.4(BBS2):c.870C>T (p.Ala290=) rs750516217
NM_031885.4(BBS2):c.941-2A>C rs878962682
NM_031885.4(BBS2):c.943C>T (p.Arg315Trp) rs121908178
NM_031885.4(BBS2):c.950A>G (p.Tyr317Cys) rs1597016660
NM_031885.4(BBS2):c.984C>T (p.Leu328=) rs1285508370
NM_031885.4(BBS2):c.986T>C (p.Met329Thr) rs201146063
NM_031885.4(BBS2):c.995G>A (p.Ser332Asn) rs199655331
NM_031885.5(BBS2):c.1120C>T (p.Arg374Trp)
NM_031885.5(BBS2):c.112G>A (p.Gly38Ser)
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met)
NM_031885.5(BBS2):c.1166_1169del (p.Val389fs)
NM_031885.5(BBS2):c.117+5C>T
NM_031885.5(BBS2):c.1206dup (p.Arg403fs)
NM_031885.5(BBS2):c.1208G>C (p.Arg403Pro)
NM_031885.5(BBS2):c.1220C>T (p.Ser407Phe)
NM_031885.5(BBS2):c.1223A>G (p.Asn408Ser)
NM_031885.5(BBS2):c.1297A>G (p.Ser433Gly)
NM_031885.5(BBS2):c.1398-2A>G
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.1516C>T (p.Arg506Trp)
NM_031885.5(BBS2):c.1527+5G>C
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.1690G>A (p.Ala564Thr)
NM_031885.5(BBS2):c.1759C>T (p.Pro587Ser)
NM_031885.5(BBS2):c.1797G>A (p.Lys599=)
NM_031885.5(BBS2):c.1808A>G (p.Tyr603Cys)
NM_031885.5(BBS2):c.1808_1809del (p.Tyr603fs)
NM_031885.5(BBS2):c.1843dup (p.Ala615fs)
NM_031885.5(BBS2):c.184C>G (p.Leu62Val)
NM_031885.5(BBS2):c.1852T>G (p.Ser618Ala)
NM_031885.5(BBS2):c.1927C>T (p.Arg643Cys)
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter)
NM_031885.5(BBS2):c.1982G>A (p.Arg661His)
NM_031885.5(BBS2):c.1986dup (p.Asn663Ter)
NM_031885.5(BBS2):c.1999G>C (p.Glu667Gln)
NM_031885.5(BBS2):c.2056C>T (p.Arg686Trp)
NM_031885.5(BBS2):c.2084T>C (p.Ile695Thr)
NM_031885.5(BBS2):c.269A>G (p.Asp90Gly)
NM_031885.5(BBS2):c.35A>G (p.His12Arg)
NM_031885.5(BBS2):c.422A>G (p.Asn141Ser)
NM_031885.5(BBS2):c.440del (p.Phe147fs)
NM_031885.5(BBS2):c.504del (p.Leu168fs)
NM_031885.5(BBS2):c.581A>G (p.Asp194Gly)
NM_031885.5(BBS2):c.635T>C (p.Met212Thr)
NM_031885.5(BBS2):c.685T>C (p.Tyr229His) rs778543585
NM_031885.5(BBS2):c.68G>C (p.Arg23Pro)
NM_031885.5(BBS2):c.717+5G>A
NM_031885.5(BBS2):c.718-2A>C
NM_031885.5(BBS2):c.725A>G (p.Asn242Ser)
NM_031885.5(BBS2):c.774del (p.Asn258fs)
NM_031885.5(BBS2):c.804+1_804+14del
NM_031885.5(BBS2):c.941-1G>C
NM_031885.5(BBS2):c.962C>T (p.Thr321Met)
NM_031885.5(BBS2):c.983T>A (p.Leu328His)
NM_031885.5(BBS2):c.988G>A (p.Asp330Asn)

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