ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 301
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.209G>A (p.Ser70Asn) rs4784677 0.99534
NM_031885.5(BBS2):c.367A>G (p.Ile123Val) rs11373 0.20545
NM_031885.5(BBS2):c.613-54C>G rs4784675 0.16235
NM_031885.5(BBS2):c.-40T>C rs115078074 0.07623
NM_031885.5(BBS2):c.-42T>G rs78076550 0.07623
NM_031885.5(BBS2):c.718-34G>A rs79900021 0.03789
NM_031885.5(BBS2):c.1659+3A>G rs6499838 0.03415
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val) rs16957538 0.02076
NM_031885.5(BBS2):c.612+12C>A rs77019529 0.01713
NM_031885.5(BBS2):c.1413A>C (p.Val471=) rs35294865 0.01415
NM_031885.5(BBS2):c.*316A>G rs17341965 0.00814
NM_031885.5(BBS2):c.*13C>T rs141170836 0.00607
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
NM_031885.5(BBS2):c.*34A>G rs199627406 0.00125
NM_031885.5(BBS2):c.865A>G (p.Ile289Val) rs150384293 0.00113
NM_031885.3(BBS2):c.-225C>T rs117744577 0.00111
NM_031885.5(BBS2):c.1380C>T (p.Phe460=) rs141046144 0.00086
NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro) rs115328064 0.00068
NM_031885.5(BBS2):c.126T>G (p.Ile42Met) rs139945733 0.00061
NM_031885.5(BBS2):c.472-10T>C rs138714256 0.00049
NM_031885.5(BBS2):c.525A>G (p.Gly175=) rs34191306 0.00045
NM_031885.5(BBS2):c.1797+12C>T rs370960689 0.00034
NM_031885.5(BBS2):c.2079G>A (p.Gln693=) rs150797250 0.00034
NM_031885.5(BBS2):c.995G>A (p.Ser332Asn) rs199655331 0.00033
NM_031885.5(BBS2):c.358G>A (p.Ala120Thr) rs148808295 0.00030
NM_031885.5(BBS2):c.1104C>T (p.Asn368=) rs141731677 0.00024
NM_031885.3(BBS2):c.-190G>C rs555974619 0.00019
NM_031885.5(BBS2):c.1927C>T (p.Arg643Cys) rs147397090 0.00019
NM_031885.5(BBS2):c.725A>G (p.Asn242Ser) rs199898889 0.00019
NM_031885.5(BBS2):c.*91C>T rs148188874 0.00012
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met) rs138314289 0.00012
NM_031885.5(BBS2):c.1516C>T (p.Arg506Trp) rs560253338 0.00011
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_031885.5(BBS2):c.642C>T (p.Gly214=) rs141563594 0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter) rs121908177 0.00010
NM_031885.3(BBS2):c.-208G>A rs977994154 0.00008
NM_031885.5(BBS2):c.1381G>A (p.Val461Met) rs377000980 0.00008
NM_031885.5(BBS2):c.470C>T (p.Thr157Met) rs376483931 0.00008
NM_031885.5(BBS2):c.1953T>C (p.Asn651=) rs200621431 0.00007
NM_031885.5(BBS2):c.-147G>T rs886052154 0.00006
NM_031885.5(BBS2):c.1527+5G>C rs769041685 0.00006
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser) rs181107019 0.00006
NM_031885.5(BBS2):c.1909A>T (p.Met637Leu) rs967941621 0.00005
NM_031885.5(BBS2):c.837C>T (p.Val279=) rs748579225 0.00005
NM_031885.5(BBS2):c.1046T>G (p.Leu349Trp) rs752280639 0.00004
NM_031885.5(BBS2):c.111G>A (p.Thr37=) rs191867233 0.00004
NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys) rs766873519 0.00004
NM_031885.5(BBS2):c.1666A>G (p.Ile556Val) rs376380339 0.00004
NM_031885.5(BBS2):c.1885G>A (p.Glu629Lys) rs746505864 0.00004
NM_031885.5(BBS2):c.2056C>T (p.Arg686Trp) rs372135700 0.00004
NM_031885.5(BBS2):c.422A>G (p.Asn141Ser) rs144680278 0.00004
NM_031885.5(BBS2):c.534+1G>T rs773862084 0.00004
NM_031885.5(BBS2):c.744T>C (p.His248=) rs186893286 0.00004
NM_031885.5(BBS2):c.962C>T (p.Thr321Met) rs758548498 0.00004
NM_031885.3(BBS2):c.-177C>T rs567188429 0.00003
NM_031885.3(BBS2):c.-178C>T rs548915387 0.00003
NM_031885.5(BBS2):c.1120C>T (p.Arg374Trp) rs143607562 0.00003
NM_031885.5(BBS2):c.1223A>G (p.Asn408Ser) rs761864599 0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 0.00003
NM_031885.5(BBS2):c.1284C>T (p.His428=) rs757521927 0.00003
NM_031885.5(BBS2):c.1527+12G>A rs376715521 0.00003
NM_031885.5(BBS2):c.1615C>T (p.Arg539Trp) rs1175381219 0.00003
NM_031885.5(BBS2):c.1890T>C (p.Asp630=) rs1176715641 0.00003
NM_031885.5(BBS2):c.1928G>A (p.Arg643His) rs532361142 0.00003
NM_031885.5(BBS2):c.1982G>A (p.Arg661His) rs747686535 0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg) rs376306240 0.00003
NM_031885.5(BBS2):c.58G>A (p.Ala20Thr) rs886052150 0.00003
NM_031885.5(BBS2):c.635T>C (p.Met212Thr) rs764600063 0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter) rs121908175 0.00003
NM_031885.5(BBS2):c.851A>G (p.Asn284Ser) rs377749641 0.00003
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp) rs121908178 0.00003
NM_031885.5(BBS2):c.112G>A (p.Gly38Ser) rs768699088 0.00002
NM_031885.5(BBS2):c.118G>T (p.Val40Phe) rs886043059 0.00002
NM_031885.5(BBS2):c.1333A>G (p.Ile445Val) rs145757541 0.00002
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter) rs762047808 0.00002
NM_031885.5(BBS2):c.1879G>A (p.Gly627Arg) rs149473225 0.00002
NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys) rs200021475 0.00002
NM_031885.5(BBS2):c.1910+9T>G rs751604858 0.00002
NM_031885.5(BBS2):c.1934T>C (p.Met645Thr) rs757737589 0.00002
NM_031885.5(BBS2):c.2088T>C (p.Thr696=) rs886052144 0.00002
NM_031885.5(BBS2):c.2144G>A (p.Arg715Gln) rs761068592 0.00002
NM_031885.5(BBS2):c.382T>C (p.Leu128=) rs374060552 0.00002
NM_031885.5(BBS2):c.685T>C (p.Tyr229His) rs778543585 0.00002
NM_031885.5(BBS2):c.691A>G (p.Lys231Glu) rs754487754 0.00002
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter) rs764164384 0.00002
NM_031885.5(BBS2):c.819T>C (p.Ser273=) rs550992948 0.00002
NM_031885.5(BBS2):c.86C>T (p.Pro29Leu) rs771211831 0.00002
NM_031885.5(BBS2):c.988G>A (p.Asp330Asn) rs144573829 0.00002
NM_031885.3(BBS2):c.-199A>T rs569642995 0.00001
NM_031885.5(BBS2):c.1112del (p.Asp371fs) rs1472488128 0.00001
NM_031885.5(BBS2):c.1134A>G (p.Pro378=) rs185178790 0.00001
NM_031885.5(BBS2):c.1139A>G (p.Asn380Ser) rs773720173 0.00001
NM_031885.5(BBS2):c.117+5C>T rs1460934723 0.00001
NM_031885.5(BBS2):c.1226-11C>T rs371851180 0.00001
NM_031885.5(BBS2):c.1240G>A (p.Ala414Thr) rs375585469 0.00001
NM_031885.5(BBS2):c.1437T>C (p.Pro479=) rs747415803 0.00001
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter) rs778090540 0.00001
NM_031885.5(BBS2):c.1486A>G (p.Ile496Val) rs549070573 0.00001
NM_031885.5(BBS2):c.159T>G (p.Ser53Arg) rs1250423040 0.00001
NM_031885.5(BBS2):c.1662C>G (p.Ile554Met) rs774112668 0.00001
NM_031885.5(BBS2):c.1673C>T (p.Thr558Ile) rs370581600 0.00001
NM_031885.5(BBS2):c.1759C>T (p.Pro587Ser) rs1288834218 0.00001
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter) rs121908176 0.00001
NM_031885.5(BBS2):c.1808A>G (p.Tyr603Cys) rs752749569 0.00001
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter) rs201063733 0.00001
NM_031885.5(BBS2):c.184C>G (p.Leu62Val) rs201860939 0.00001
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter) rs201196733 0.00001
NM_031885.5(BBS2):c.1891G>A (p.Ala631Thr) rs771822557 0.00001
NM_031885.5(BBS2):c.1946_1952del (p.Asp649fs) rs745951028 0.00001
NM_031885.5(BBS2):c.194A>T (p.Asp65Val) rs746643609 0.00001
NM_031885.5(BBS2):c.1986dup (p.Asn663Ter) rs1597001788 0.00001
NM_031885.5(BBS2):c.1999G>C (p.Glu667Gln) rs1476749003 0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) rs567573386 0.00001
NM_031885.5(BBS2):c.2143C>T (p.Arg715Ter) rs1555520107 0.00001
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys) rs750506474 0.00001
NM_031885.5(BBS2):c.327G>A (p.Ser109=) rs770497817 0.00001
NM_031885.5(BBS2):c.334T>C (p.Phe112Leu) rs772864503 0.00001
NM_031885.5(BBS2):c.345+5G>A rs1430976492 0.00001
NM_031885.5(BBS2):c.408G>A (p.Ala136=) rs771554929 0.00001
NM_031885.5(BBS2):c.471G>A (p.Thr157=) rs749983428 0.00001
NM_031885.5(BBS2):c.504del (p.Leu168fs) rs1224014742 0.00001
NM_031885.5(BBS2):c.508G>A (p.Asp170Asn) rs786205498 0.00001
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu) rs767373822 0.00001
NM_031885.5(BBS2):c.534+7G>C rs886052149 0.00001
NM_031885.5(BBS2):c.563del (p.Ile188fs) rs1367927635 0.00001
NM_031885.5(BBS2):c.565C>T (p.Arg189Ter) rs1273181642 0.00001
NM_031885.5(BBS2):c.603A>C (p.Thr201=) rs768647514 0.00001
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter) rs121908180 0.00001
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter) rs779690256 0.00001
NM_031885.5(BBS2):c.717+1G>A rs1047075022 0.00001
NM_031885.5(BBS2):c.718-3C>T rs779134746 0.00001
NM_031885.5(BBS2):c.730_732del (p.Ala244del) rs1171314440 0.00001
NM_031885.5(BBS2):c.783A>C (p.Ile261=) rs183982328 0.00001
NM_031885.5(BBS2):c.78G>A (p.Gly26=) rs759629466 0.00001
NM_031885.5(BBS2):c.940+1del rs746171104 0.00001
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp) rs797045155 0.00001
BBS2, CYS210FS, TER246
NM_000132.4(F8):c.1847A>G (p.Asn616Ser)
NM_024753.5(TTC21B):c.264_267dupTAGA rs748514860
NM_031885.3(BBS2):c.-163C>T rs750434595
NM_031885.3(BBS2):c.-191G>T rs16964239
NM_031885.3(BBS2):c.1528_1539del12 rs1555521575
NM_031885.5(BBS2):c.-118C>T rs1042357903
NM_031885.5(BBS2):c.-133C>T rs886052152
NM_031885.5(BBS2):c.-137C>G rs77438708
NM_031885.5(BBS2):c.-161G>A rs886052155
NM_031885.5(BBS2):c.-22C>T rs528287127
NM_031885.5(BBS2):c.-67C>G rs886052151
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter) rs193922710
NM_031885.5(BBS2):c.1027C>T (p.Gln343Ter)
NM_031885.5(BBS2):c.1066G>T (p.Glu356Ter) rs1192804794
NM_031885.5(BBS2):c.1081-1G>T rs1555522000
NM_031885.5(BBS2):c.1088T>A (p.Leu363Ter)
NM_031885.5(BBS2):c.1099dup (p.Leu367fs) rs797044632
NM_031885.5(BBS2):c.1118A>G (p.His373Arg) rs886052146
NM_031885.5(BBS2):c.1163C>G (p.Ser388Ter)
NM_031885.5(BBS2):c.1166_1169del (p.Val389fs) rs1964269329
NM_031885.5(BBS2):c.1169G>T (p.Ser390Ile) rs1169691619
NM_031885.5(BBS2):c.117G>C (p.Lys39Asn) rs755877218
NM_031885.5(BBS2):c.118-1G>C rs587777825
NM_031885.5(BBS2):c.118-2A>C
NM_031885.5(BBS2):c.118-2A>G
NM_031885.5(BBS2):c.1206dup (p.Arg403fs) rs1964267396
NM_031885.5(BBS2):c.1225+2T>C
NM_031885.5(BBS2):c.1225+2T>G
NM_031885.5(BBS2):c.1225+2dup
NM_031885.5(BBS2):c.1245_1261del (p.Leu416fs)
NM_031885.5(BBS2):c.1260_1262delinsTGTGTAT (p.Glu420fs)
NM_031885.5(BBS2):c.1269del (p.Phe423fs)
NM_031885.5(BBS2):c.1273_1274insAACTGGAGAGGTT (p.Gly425fs)
NM_031885.5(BBS2):c.1290dup (p.His431fs) rs777420525
NM_031885.5(BBS2):c.1310_1344del (p.Leu437fs)
NM_031885.5(BBS2):c.1313_1314insT (p.Ser439fs)
NM_031885.5(BBS2):c.1353_1354insTCAGTTTTGTCATCTTT (p.Pro452fs)
NM_031885.5(BBS2):c.1355del (p.Pro452fs)
NM_031885.5(BBS2):c.1397+2T>C
NM_031885.5(BBS2):c.1397+7C>A rs771297840
NM_031885.5(BBS2):c.1402C>T (p.Gln468Ter) rs1791390525
NM_031885.5(BBS2):c.142C>T (p.Arg48Trp) rs1030249829
NM_031885.5(BBS2):c.1453_1456dup (p.Leu486fs)
NM_031885.5(BBS2):c.1454C>T (p.Ala485Val) rs376115616
NM_031885.5(BBS2):c.1461del (p.Ser488fs)
NM_031885.5(BBS2):c.1486_1489del (p.Ile496fs) rs1363846772
NM_031885.5(BBS2):c.1502_1503del (p.Phe501fs)
NM_031885.5(BBS2):c.1517G>A (p.Arg506Gln) rs1278932190
NM_031885.5(BBS2):c.1527+1G>A rs2144138948
NM_031885.5(BBS2):c.152A>G (p.His51Arg) rs1964682368
NM_031885.5(BBS2):c.1544del (p.Gly515fs) rs2144134987
NM_031885.5(BBS2):c.1546C>T (p.Gln516Ter) rs1597012997
NM_031885.5(BBS2):c.157del (p.Ser53fs)
NM_031885.5(BBS2):c.1594C>T (p.Gln532Ter)
NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys) rs556899786
NM_031885.5(BBS2):c.1654_1655insCT (p.Gly552fs)
NM_031885.5(BBS2):c.1690G>T (p.Ala564Ser)
NM_031885.5(BBS2):c.1697A>G (p.Asp566Gly) rs1964156754
NM_031885.5(BBS2):c.1700del (p.Ile567fs)
NM_031885.5(BBS2):c.1705C>T (p.Gln569Ter) rs1555521501
NM_031885.5(BBS2):c.1725del (p.Phe575fs) rs2144132609
NM_031885.5(BBS2):c.1725dup (p.Ala576fs)
NM_031885.5(BBS2):c.1747G>T (p.Glu583Ter)
NM_031885.5(BBS2):c.1762_1765del (p.Val588fs) rs1964155109
NM_031885.5(BBS2):c.1770del (p.Phe590fs) rs193922711
NM_031885.5(BBS2):c.1778T>A (p.Leu593Ter) rs1964154734
NM_031885.5(BBS2):c.1794dup (p.Lys599Ter)
NM_031885.5(BBS2):c.1795_1796del (p.Lys599fs)
NM_031885.5(BBS2):c.1797+1G>A rs1555521489
NM_031885.5(BBS2):c.1816G>T (p.Val606Leu) rs930659537
NM_031885.5(BBS2):c.1843dup (p.Ala615fs) rs1199538371
NM_031885.5(BBS2):c.184dup (p.Leu62fs)
NM_031885.5(BBS2):c.1895G>A (p.Arg632His) rs138043021
NM_031885.5(BBS2):c.1902G>T (p.Met634Ile) rs886052145
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.5(BBS2):c.1910+1G>A
NM_031885.5(BBS2):c.1911-1G>A rs1555520256
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter) rs1963758780
NM_031885.5(BBS2):c.1944T>A (p.Tyr648Ter)
NM_031885.5(BBS2):c.1969G>T (p.Gly657Ter) rs1166717771
NM_031885.5(BBS2):c.1973A>G (p.Tyr658Cys) rs753656568
NM_031885.5(BBS2):c.2038C>T (p.Gln680Ter) rs1555520220
NM_031885.5(BBS2):c.2043_2058dup (p.Val687fs) rs1555520212
NM_031885.5(BBS2):c.2059+1del
NM_031885.5(BBS2):c.2060-1G>T rs1555520142
NM_031885.5(BBS2):c.2077del (p.Gln693fs)
NM_031885.5(BBS2):c.2084T>C (p.Ile695Thr) rs1426683547
NM_031885.5(BBS2):c.2166G>C (p.Ter722Tyr) rs1555520101
NM_031885.5(BBS2):c.217C>T (p.Gln73Ter) rs199940492
NM_031885.5(BBS2):c.224T>G (p.Val75Gly) rs121908174
NM_031885.5(BBS2):c.235A>C (p.Thr79Pro) rs1387025330
NM_031885.5(BBS2):c.247T>C (p.Leu83=) rs1567584842
NM_031885.5(BBS2):c.255del (p.Glu86fs) rs2144193104
NM_031885.5(BBS2):c.256_278dup (p.Val94fs) rs2144193013
NM_031885.5(BBS2):c.263del (p.Gly88fs) rs869025206
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys) rs560910758
NM_031885.5(BBS2):c.278T>A (p.Leu93Ter)
NM_031885.5(BBS2):c.284_285del (p.Gly95fs)
NM_031885.5(BBS2):c.289C>T (p.Gln97Ter) rs1964676925
NM_031885.5(BBS2):c.302T>A (p.Leu101Ter) rs1964676419
NM_031885.5(BBS2):c.309_310insCACA (p.Asp104fs)
NM_031885.5(BBS2):c.313_314insCCC (p.Val105delinsAlaLeu)
NM_031885.5(BBS2):c.324_343del (p.Asn108fs) rs1555523964
NM_031885.5(BBS2):c.326C>A (p.Ser109Ter) rs181736797
NM_031885.5(BBS2):c.343G>T (p.Glu115Ter) rs1964674209
NM_031885.5(BBS2):c.346-1G>C
NM_031885.5(BBS2):c.35A>G (p.His12Arg) rs1238233777
NM_031885.5(BBS2):c.361_367delinsTTATGCAG (p.Asn121fs)
NM_031885.5(BBS2):c.365C>T (p.Ala122Val) rs17856449
NM_031885.5(BBS2):c.365del (p.Ala122fs) rs1964569500
NM_031885.5(BBS2):c.404T>A (p.Leu135His) rs2144181822
NM_031885.5(BBS2):c.406dup (p.Ala136fs)
NM_031885.5(BBS2):c.416G>T (p.Gly139Val) rs121908181
NM_031885.5(BBS2):c.421_423del (p.Asn141del)
NM_031885.5(BBS2):c.437del (p.Gly146fs) rs1170844318
NM_031885.5(BBS2):c.440del (p.Phe147fs) rs1433422530
NM_031885.5(BBS2):c.471+1G>A rs1555523584
NM_031885.5(BBS2):c.472-2A>G rs137854887
NM_031885.5(BBS2):c.482A>G (p.Asp161Gly) rs755150651
NM_031885.5(BBS2):c.491_501del (p.Asn164fs)
NM_031885.5(BBS2):c.497T>A (p.Leu166Ter) rs1964558577
NM_031885.5(BBS2):c.505T>C (p.Cys169Arg)
NM_031885.5(BBS2):c.509A>G (p.Asp170Gly)
NM_031885.5(BBS2):c.534+2T>C
NM_031885.5(BBS2):c.535-1G>A
NM_031885.5(BBS2):c.559dup (p.Asp187fs)
NM_031885.5(BBS2):c.55G>A (p.Val19Met) rs1158566793
NM_031885.5(BBS2):c.55del (p.Val19fs) rs1555524593
NM_031885.5(BBS2):c.583G>T (p.Glu195Ter) rs1964531867
NM_031885.5(BBS2):c.612+1G>A
NM_031885.5(BBS2):c.613-1G>C rs2144163316
NM_031885.5(BBS2):c.619_620del (p.Thr207fs)
NM_031885.5(BBS2):c.627_628del (p.Cys210fs) rs773417074
NM_031885.5(BBS2):c.634A>G (p.Met212Val) rs886052148
NM_031885.5(BBS2):c.650T>G (p.Phe217Cys)
NM_031885.5(BBS2):c.653G>A (p.Gly218Asp)
NM_031885.5(BBS2):c.661del (p.Leu221fs) rs770258677
NM_031885.5(BBS2):c.68G>T (p.Arg23Leu) rs1162842645
NM_031885.5(BBS2):c.691A>T (p.Lys231Ter)
NM_031885.5(BBS2):c.717+2T>G rs1555522893
NM_031885.5(BBS2):c.718-2A>C rs1964413705
NM_031885.5(BBS2):c.721A>T (p.Lys241Ter) rs1964413369
NM_031885.5(BBS2):c.766G>A (p.Gly256Arg) rs886052147
NM_031885.5(BBS2):c.766G>T (p.Gly256Ter)
NM_031885.5(BBS2):c.784dup (p.Thr262fs)
NM_031885.5(BBS2):c.791G>A (p.Trp264Ter)
NM_031885.5(BBS2):c.802A>T (p.Lys268Ter)
NM_031885.5(BBS2):c.856del (p.Ser286fs)
NM_031885.5(BBS2):c.913T>G (p.Leu305Val) rs1964310691
NM_031885.5(BBS2):c.918_919dup (p.Cys307fs) rs1555522252
NM_031885.5(BBS2):c.926C>T (p.Ser309Leu)
NM_031885.5(BBS2):c.940+1G>A
NM_031885.5(BBS2):c.940del (p.Ile314fs) rs587777824
NM_031885.5(BBS2):c.941-1G>A
NM_031885.5(BBS2):c.941-1G>T rs777234811
NM_031885.5(BBS2):c.941-2A>C rs878962682
NM_031885.5(BBS2):c.941-2A>G
NM_031885.5(BBS2):c.944G>A (p.Arg315Gln) rs544773389
NM_031885.5(BBS2):c.950A>G (p.Tyr317Cys) rs1597016660
NM_031885.5(BBS2):c.962C>A (p.Thr321Lys) rs758548498
NM_031885.5(BBS2):c.975_985del (p.Arg325fs)
NM_031885.5(BBS2):c.983T>A (p.Leu328His) rs753806664
NM_031885.5(BBS2):c.984C>T (p.Leu328=) rs1285508370

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.