ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 2

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Minimum conflict level:
ClinVar version:
Total variants: 303
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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 0.16425
NM_031885.5(BBS2):c.-42T>G rs78076550 0.07807
NM_031885.5(BBS2):c.-40T>C rs115078074 0.07623
NM_031885.5(BBS2):c.718-34G>A rs79900021 0.04241
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 0.00243
NM_031885.5(BBS2):c.*34A>G rs199627406 0.00119
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 0.00060
NM_031885.5(BBS2):c.472-10T>C rs138714256 0.00052
NM_031885.5(BBS2):c.525A>G (p.Gly175=) rs34191306 0.00041
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.358G>A (p.Ala120Thr) rs148808295 0.00030
NM_031885.5(BBS2):c.995G>A (p.Ser332Asn) rs199655331 0.00030
NM_031885.5(BBS2):c.1134A>G (p.Pro378=) rs185178790 0.00027
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.266A>G (p.Tyr89Cys) rs560910758 0.00015
NM_031885.5(BBS2):c.*91C>T rs148188874 0.00012
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met) rs138314289 0.00011
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_031885.5(BBS2):c.1953T>C (p.Asn651=) rs200621431 0.00008
NM_031885.5(BBS2):c.470C>T (p.Thr157Met) rs376483931 0.00008
NM_031885.3(BBS2):c.-208G>A rs977994154 0.00007
NM_031885.5(BBS2):c.1381G>A (p.Val461Met) rs377000980 0.00007
NM_031885.5(BBS2):c.-147G>T rs886052154 0.00006
NM_031885.5(BBS2):c.1226-11C>T rs371851180 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_000132.4(F8):c.1847A>G (p.Asn616Ser) rs375093700 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.1909A>T (p.Met637Leu) rs967941621 0.00004
NM_031885.5(BBS2):c.1928G>A (p.Arg643His) rs532361142 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.-22C>T rs528287127 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.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.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.814C>T (p.Arg272Ter) rs764164384 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.1139A>G (p.Asn380Ser) rs773720173 0.00001
NM_031885.5(BBS2):c.117+5C>T rs1460934723 0.00001
NM_031885.5(BBS2):c.1225+2T>C rs1279981768 0.00001
NM_031885.5(BBS2):c.1240G>A (p.Ala414Thr) rs375585469 0.00001
NM_031885.5(BBS2):c.1397+7C>A rs771297840 0.00001
NM_031885.5(BBS2):c.142C>T (p.Arg48Trp) rs1030249829 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.1517G>A (p.Arg506Gln) rs1278932190 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.1934T>C (p.Met645Thr) rs757737589 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.224T>G (p.Val75Gly) rs121908174 0.00001
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys) rs750506474 0.00001
NM_031885.5(BBS2):c.247T>C (p.Leu83=) rs1567584842 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.346-1G>C rs753845990 0.00001
NM_031885.5(BBS2):c.406dup (p.Ala136fs) rs756003832 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.653G>A (p.Gly218Asp) rs1375309270 0.00001
NM_031885.5(BBS2):c.691A>G (p.Lys231Glu) rs754487754 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.819T>C (p.Ser273=) rs550992948 0.00001
NM_031885.5(BBS2):c.86C>T (p.Pro29Leu) rs771211831 0.00001
NM_031885.5(BBS2):c.940+1del rs746171104 0.00001
NM_031885.5(BBS2):c.944G>A (p.Arg315Gln) rs544773389 0.00001
NM_031885.5(BBS2):c.988G>A (p.Asp330Asn) rs144573829 0.00001
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp) rs797045155 0.00001
BBS2, CYS210FS, TER246
NM_024753.5(TTC21B):c.264_267dupTAGA rs748514860
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.-163C>T rs750434595
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) rs1337345059
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) rs2543709618
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) rs745820842
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 rs2543742094
NM_031885.5(BBS2):c.118-2A>G rs2543742094
NM_031885.5(BBS2):c.1197del (p.His399fs)
NM_031885.5(BBS2):c.1206dup (p.Arg403fs) rs1964267396
NM_031885.5(BBS2):c.1225+2T>G rs1279981768
NM_031885.5(BBS2):c.1225+2dup rs1567575193
NM_031885.5(BBS2):c.1245_1261del (p.Leu416fs) rs2543707890
NM_031885.5(BBS2):c.1260_1262delinsTGTGTAT (p.Glu420fs) rs2543707875
NM_031885.5(BBS2):c.1269del (p.Phe423fs) rs2543707834
NM_031885.5(BBS2):c.1273_1274insAACTGGAGAGGTT (p.Gly425fs) rs2543707814
NM_031885.5(BBS2):c.1290dup (p.His431fs) rs777420525
NM_031885.5(BBS2):c.1310_1344del (p.Leu437fs) rs2543707585
NM_031885.5(BBS2):c.1313_1314insT (p.Ser439fs) rs2543707684
NM_031885.5(BBS2):c.1353_1354insTCAGTTTTGTCATCTTT (p.Pro452fs) rs2543707534
NM_031885.5(BBS2):c.1355del (p.Pro452fs) rs2543707528
NM_031885.5(BBS2):c.1397+2T>C rs779506379
NM_031885.5(BBS2):c.1402C>T (p.Gln468Ter) rs1791390525
NM_031885.5(BBS2):c.1453_1456dup (p.Leu486fs) rs2543704434
NM_031885.5(BBS2):c.1454C>T (p.Ala485Val) rs376115616
NM_031885.5(BBS2):c.1461del (p.Ser488fs) rs2543704416
NM_031885.5(BBS2):c.1486_1489del (p.Ile496fs) rs1363846772
NM_031885.5(BBS2):c.1502_1503del (p.Phe501fs) rs2543704303
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) rs2543741926
NM_031885.5(BBS2):c.1594C>T (p.Gln532Ter) rs2144134780
NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys) rs556899786
NM_031885.5(BBS2):c.1654_1655insCT (p.Gly552fs) rs2543700164
NM_031885.5(BBS2):c.1690G>T (p.Ala564Ser) rs780747680
NM_031885.5(BBS2):c.1697A>G (p.Asp566Gly) rs1964156754
NM_031885.5(BBS2):c.1700del (p.Ile567fs) rs2543698536
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) rs2144132609
NM_031885.5(BBS2):c.1747G>T (p.Glu583Ter) rs2543698377
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) rs2543698183
NM_031885.5(BBS2):c.1795_1796del (p.Lys599fs) rs2543698172
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) rs1281259093
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 rs757391646
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) rs1014315603
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 rs1457486459
NM_031885.5(BBS2):c.2060-1G>T rs1555520142
NM_031885.5(BBS2):c.2077del (p.Gln693fs) rs2543670448
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.235A>C (p.Thr79Pro) rs1387025330
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.278T>A (p.Leu93Ter) rs2543741373
NM_031885.5(BBS2):c.284_285del (p.Gly95fs) rs2543741333
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) rs2543741194
NM_031885.5(BBS2):c.313_314insCCC (p.Val105delinsAlaLeu) rs2543741158
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.35A>G (p.His12Arg) rs1238233777
NM_031885.5(BBS2):c.361_367delinsTTATGCAG (p.Asn121fs) rs2543733652
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.416G>T (p.Gly139Val) rs121908181
NM_031885.5(BBS2):c.421_423del (p.Asn141del) rs2543733379
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) rs2543732310
NM_031885.5(BBS2):c.497T>A (p.Leu166Ter) rs1964558577
NM_031885.5(BBS2):c.505T>C (p.Cys169Arg) rs2543732277
NM_031885.5(BBS2):c.509A>G (p.Asp170Gly)
NM_031885.5(BBS2):c.534+2T>C rs2543732096
NM_031885.5(BBS2):c.535-1G>A rs2144177127
NM_031885.5(BBS2):c.559dup (p.Asp187fs) rs2543729743
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 rs1964531402
NM_031885.5(BBS2):c.613-1G>C rs2144163316
NM_031885.5(BBS2):c.619_620del (p.Thr207fs) rs2543721525
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) rs2543721403
NM_031885.5(BBS2):c.661del (p.Leu221fs) rs770258677
NM_031885.5(BBS2):c.683T>A (p.Val228Asp)
NM_031885.5(BBS2):c.68G>T (p.Arg23Leu) rs1162842645
NM_031885.5(BBS2):c.691A>T (p.Lys231Ter) rs754487754
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) rs886052147
NM_031885.5(BBS2):c.784dup (p.Thr262fs) rs2543720613
NM_031885.5(BBS2):c.791G>A (p.Trp264Ter) rs767449884
NM_031885.5(BBS2):c.802A>T (p.Lys268Ter) rs2543720549
NM_031885.5(BBS2):c.856del (p.Ser286fs) rs2543714143
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) rs2543713802
NM_031885.5(BBS2):c.940+1G>A rs2543713728
NM_031885.5(BBS2):c.940del (p.Ile314fs) rs587777824
NM_031885.5(BBS2):c.941-1G>A rs777234811
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 rs878962682
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) rs2543712812
NM_031885.5(BBS2):c.983T>A (p.Leu328His) rs753806664
NM_031885.5(BBS2):c.984C>T (p.Leu328=) rs1285508370

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