ClinVar Miner

List of variants in gene BBS2 reported as likely benign for Bardet-Biedl syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 480
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HGVS dbSNP gnomAD frequency
NM_031885.3(BBS2):c.-239G>A rs2303284 0.19980
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.1659+18G>A rs371421381 0.00067
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.995G>A (p.Ser332Asn) rs199655331 0.00033
NM_031885.5(BBS2):c.1238G>A (p.Arg413Gln) rs141683908 0.00031
NM_031885.5(BBS2):c.534+20T>C rs369579609 0.00027
NM_031885.5(BBS2):c.1623C>T (p.Gly541=) rs143951580 0.00026
NM_031885.5(BBS2):c.1104C>T (p.Asn368=) rs141731677 0.00024
NM_031885.5(BBS2):c.471+17A>G rs200587401 0.00018
NM_031885.5(BBS2):c.642C>T (p.Gly214=) rs141563594 0.00010
NM_031885.5(BBS2):c.612+18G>A rs200364314 0.00009
NM_031885.5(BBS2):c.870C>T (p.Ala290=) rs750516217 0.00009
NM_031885.5(BBS2):c.117+14C>T rs372785118 0.00008
NM_031885.5(BBS2):c.1215C>T (p.Ser405=) rs768053787 0.00008
NM_031885.5(BBS2):c.1528-15G>T rs368282063 0.00008
NM_031885.5(BBS2):c.1953T>C (p.Asn651=) rs200621431 0.00007
NM_031885.5(BBS2):c.1797+13G>A rs769739310 0.00006
NM_031885.5(BBS2):c.2128C>T (p.Leu710=) rs762391617 0.00006
NM_031885.5(BBS2):c.534+17A>T rs372085811 0.00006
NM_031885.5(BBS2):c.1152C>T (p.His384=) rs774493134 0.00005
NM_031885.5(BBS2):c.1798-11A>G rs374344685 0.00005
NM_031885.5(BBS2):c.837C>T (p.Val279=) rs748579225 0.00005
NM_031885.5(BBS2):c.111G>A (p.Thr37=) rs191867233 0.00004
NM_031885.5(BBS2):c.1527+13C>T rs756219595 0.00004
NM_031885.5(BBS2):c.531A>G (p.Lys177=) rs558360994 0.00004
NM_031885.5(BBS2):c.117+10C>T rs376041093 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.1878C>T (p.Val626=) rs555264290 0.00003
NM_031885.5(BBS2):c.1890T>C (p.Asp630=) rs1176715641 0.00003
NM_031885.5(BBS2):c.1950T>C (p.Leu650=) rs752978565 0.00003
NM_031885.5(BBS2):c.2059+15A>G rs571449292 0.00003
NM_031885.5(BBS2):c.612+17C>T rs745726316 0.00003
NM_031885.5(BBS2):c.717+16C>A rs752825833 0.00003
NM_031885.5(BBS2):c.1225+17A>G rs1444102830 0.00002
NM_031885.5(BBS2):c.1456C>T (p.Leu486=) rs780493609 0.00002
NM_031885.5(BBS2):c.1458G>A (p.Leu486=) rs756379392 0.00002
NM_031885.5(BBS2):c.1470C>T (p.Asp490=) rs370024579 0.00002
NM_031885.5(BBS2):c.1851T>C (p.His617=) rs1259765246 0.00002
NM_031885.5(BBS2):c.1910+9T>G rs751604858 0.00002
NM_031885.5(BBS2):c.2016C>G (p.Leu672=) rs768160656 0.00002
NM_031885.5(BBS2):c.2088T>C (p.Thr696=) rs886052144 0.00002
NM_031885.5(BBS2):c.382T>C (p.Leu128=) rs374060552 0.00002
NM_031885.5(BBS2):c.613-12A>G rs900817907 0.00002
NM_031885.5(BBS2):c.657T>C (p.Tyr219=) rs139106996 0.00002
NM_031885.5(BBS2):c.819T>C (p.Ser273=) rs550992948 0.00002
NM_031885.5(BBS2):c.91C>T (p.Leu31=) rs373185970 0.00002
NM_031885.5(BBS2):c.941-11C>T rs763441369 0.00002
NM_031885.5(BBS2):c.941-6G>A rs746397118 0.00002
NM_031885.5(BBS2):c.1011G>A (p.Leu337=) rs767239768 0.00001
NM_031885.5(BBS2):c.1020G>A (p.Glu340=) rs987125306 0.00001
NM_031885.5(BBS2):c.1080+7G>A rs1161249297 0.00001
NM_031885.5(BBS2):c.1092C>A (p.Ala364=) rs1394766615 0.00001
NM_031885.5(BBS2):c.1155C>G (p.Thr385=) rs749121755 0.00001
NM_031885.5(BBS2):c.117+17G>T rs201119943 0.00001
NM_031885.5(BBS2):c.1209C>T (p.Arg403=) rs747086491 0.00001
NM_031885.5(BBS2):c.1225+16C>T rs774382271 0.00001
NM_031885.5(BBS2):c.1225+19C>T rs564848200 0.00001
NM_031885.5(BBS2):c.1226-11C>T rs371851180 0.00001
NM_031885.5(BBS2):c.1233C>T (p.Ile411=) rs1179390065 0.00001
NM_031885.5(BBS2):c.1257A>G (p.Ala419=) rs747607168 0.00001
NM_031885.5(BBS2):c.1314C>T (p.Ser438=) rs1204179948 0.00001
NM_031885.5(BBS2):c.1323C>T (p.Ile441=) rs759783261 0.00001
NM_031885.5(BBS2):c.1326C>T (p.Cys442=) rs1478971000 0.00001
NM_031885.5(BBS2):c.1329C>T (p.Ile443=) rs1244466598 0.00001
NM_031885.5(BBS2):c.1437T>C (p.Pro479=) rs747415803 0.00001
NM_031885.5(BBS2):c.1530T>G (p.Val510=) rs545597883 0.00001
NM_031885.5(BBS2):c.1542C>T (p.Leu514=) rs374156464 0.00001
NM_031885.5(BBS2):c.1554T>C (p.Phe518=) rs1258350117 0.00001
NM_031885.5(BBS2):c.1608A>G (p.Thr536=) rs778892001 0.00001
NM_031885.5(BBS2):c.1653T>C (p.Ser551=) rs1164036055 0.00001
NM_031885.5(BBS2):c.1659+7T>C rs1964172250 0.00001
NM_031885.5(BBS2):c.1660-10C>T rs1343645233 0.00001
NM_031885.5(BBS2):c.1777T>C (p.Leu593=) rs767778599 0.00001
NM_031885.5(BBS2):c.1798-8G>T rs370273510 0.00001
NM_031885.5(BBS2):c.1911-10A>T rs747869137 0.00001
NM_031885.5(BBS2):c.1932T>C (p.Tyr644=) rs1044072013 0.00001
NM_031885.5(BBS2):c.1989C>T (p.Asn663=) rs373278876 0.00001
NM_031885.5(BBS2):c.2059+7C>G rs113740983 0.00001
NM_031885.5(BBS2):c.2060-5T>C rs374531370 0.00001
NM_031885.5(BBS2):c.273C>A (p.Ala91=) rs1181643265 0.00001
NM_031885.5(BBS2):c.30G>A (p.Leu10=) rs1258834563 0.00001
NM_031885.5(BBS2):c.327G>A (p.Ser109=) rs770497817 0.00001
NM_031885.5(BBS2):c.408G>A (p.Ala136=) rs771554929 0.00001
NM_031885.5(BBS2):c.42C>T (p.Ile14=) rs764339260 0.00001
NM_031885.5(BBS2):c.483C>T (p.Asp161=) rs375074141 0.00001
NM_031885.5(BBS2):c.534+13G>A rs748319105 0.00001
NM_031885.5(BBS2):c.534+7G>C rs886052149 0.00001
NM_031885.5(BBS2):c.535-7C>T rs761135398 0.00001
NM_031885.5(BBS2):c.558T>C (p.Phe186=) rs768109068 0.00001
NM_031885.5(BBS2):c.603A>C (p.Thr201=) rs768647514 0.00001
NM_031885.5(BBS2):c.612+10T>C rs113091063 0.00001
NM_031885.5(BBS2):c.612+14C>G rs770986334 0.00001
NM_031885.5(BBS2):c.66G>T (p.Gly22=) rs1348539618 0.00001
NM_031885.5(BBS2):c.717+16C>T rs752825833 0.00001
NM_031885.5(BBS2):c.720G>A (p.Ser240=) rs758715963 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.810T>C (p.Asp270=) rs1309546092 0.00001
NM_031885.5(BBS2):c.873T>A (p.Gly291=) rs1298944249 0.00001
NM_031885.5(BBS2):c.888T>C (p.Asp296=) rs762618442 0.00001
NM_031885.5(BBS2):c.945G>A (p.Arg315=) rs2288057 0.00001
NM_031885.5(BBS2):c.963G>A (p.Thr321=) rs748014865 0.00001
NM_031885.5(BBS2):c.1008C>T (p.Asp336=) rs2144148893
NM_031885.5(BBS2):c.1014C>T (p.Ile338=)
NM_031885.5(BBS2):c.1038G>A (p.Gln346=)
NM_031885.5(BBS2):c.1042C>T (p.Leu348=)
NM_031885.5(BBS2):c.1065T>C (p.Tyr355=) rs2144148677
NM_031885.5(BBS2):c.1080+10G>A
NM_031885.5(BBS2):c.1080+10G>C rs2144148576
NM_031885.5(BBS2):c.1080+11G>T
NM_031885.5(BBS2):c.1080+18T>C
NM_031885.5(BBS2):c.1080+18dup
NM_031885.5(BBS2):c.1080+8T>G
NM_031885.5(BBS2):c.1080+9A>G
NM_031885.5(BBS2):c.1081-14G>C
NM_031885.5(BBS2):c.1083T>A (p.Ala361=) rs951758684
NM_031885.5(BBS2):c.1099C>T (p.Leu367=) rs1245174214
NM_031885.5(BBS2):c.111G>T (p.Thr37=) rs191867233
NM_031885.5(BBS2):c.1146G>A (p.Arg382=)
NM_031885.5(BBS2):c.1158G>A (p.Thr386=) rs199944942
NM_031885.5(BBS2):c.1161C>G (p.Leu387=) rs71387119
NM_031885.5(BBS2):c.1161C>T (p.Leu387=) rs71387119
NM_031885.5(BBS2):c.1164A>G (p.Ser388=) rs1425704431
NM_031885.5(BBS2):c.117+10C>G rs376041093
NM_031885.5(BBS2):c.117+11C>A
NM_031885.5(BBS2):c.117+12C>T
NM_031885.5(BBS2):c.117+15C>G
NM_031885.5(BBS2):c.117+16C>G
NM_031885.5(BBS2):c.117+16C>T
NM_031885.5(BBS2):c.117+19A>C
NM_031885.5(BBS2):c.117+19A>T
NM_031885.5(BBS2):c.117+7G>A rs780862523
NM_031885.5(BBS2):c.117+8C>G rs1474535437
NM_031885.5(BBS2):c.117+8C>T rs1474535437
NM_031885.5(BBS2):c.117+9T>C
NM_031885.5(BBS2):c.1171C>T (p.Leu391=)
NM_031885.5(BBS2):c.1179T>C (p.Asn393=) rs2144145352
NM_031885.5(BBS2):c.118-13A>G
NM_031885.5(BBS2):c.118-15T>C
NM_031885.5(BBS2):c.118-16G>T
NM_031885.5(BBS2):c.118-16_118-13del rs758674101
NM_031885.5(BBS2):c.118-17A>C
NM_031885.5(BBS2):c.118-8T>G
NM_031885.5(BBS2):c.1197T>C (p.His399=)
NM_031885.5(BBS2):c.1215C>A (p.Ser405=) rs768053787
NM_031885.5(BBS2):c.1221T>C (p.Ser407=) rs2144145106
NM_031885.5(BBS2):c.1225+10T>A
NM_031885.5(BBS2):c.1225+10T>C rs1597015665
NM_031885.5(BBS2):c.1225+11A>G
NM_031885.5(BBS2):c.1225+12C>T
NM_031885.5(BBS2):c.1225+14C>T
NM_031885.5(BBS2):c.1226-11C>G
NM_031885.5(BBS2):c.1226-4G>A
NM_031885.5(BBS2):c.1226-5T>C rs765486186
NM_031885.5(BBS2):c.1226-7C>T rs1399847697
NM_031885.5(BBS2):c.1227C>T (p.Asp409=) rs2144143696
NM_031885.5(BBS2):c.1230C>T (p.Thr410=)
NM_031885.5(BBS2):c.1242A>G (p.Ala414=)
NM_031885.5(BBS2):c.1260A>G (p.Glu420=)
NM_031885.5(BBS2):c.1272A>C (p.Thr424=) rs2144143509
NM_031885.5(BBS2):c.1296C>T (p.Pro432=) rs2144143413
NM_031885.5(BBS2):c.1353C>T (p.Val451=)
NM_031885.5(BBS2):c.1368C>T (p.His456=)
NM_031885.5(BBS2):c.1369T>C (p.Leu457=)
NM_031885.5(BBS2):c.1389C>T (p.Tyr463=)
NM_031885.5(BBS2):c.1397+10T>G
NM_031885.5(BBS2):c.1397+15G>A
NM_031885.5(BBS2):c.1397+7C>A rs771297840
NM_031885.5(BBS2):c.1397+7C>T
NM_031885.5(BBS2):c.1397+9T>C
NM_031885.5(BBS2):c.1398-10T>C
NM_031885.5(BBS2):c.1398-14T>C
NM_031885.5(BBS2):c.1398-4A>G
NM_031885.5(BBS2):c.1398-5C>T rs1393735395
NM_031885.5(BBS2):c.1398-7G>T rs2144139575
NM_031885.5(BBS2):c.1410T>C (p.His470=) rs761861062
NM_031885.5(BBS2):c.1413A>G (p.Val471=) rs35294865
NM_031885.5(BBS2):c.1416T>C (p.Phe472=)
NM_031885.5(BBS2):c.1419A>G (p.Glu473=)
NM_031885.5(BBS2):c.1422G>C (p.Ser474=)
NM_031885.5(BBS2):c.1422G>T (p.Ser474=) rs117033008
NM_031885.5(BBS2):c.1428A>G (p.Arg476=) rs2144139405
NM_031885.5(BBS2):c.1431G>A (p.Gln477=)
NM_031885.5(BBS2):c.1437T>G (p.Pro479=) rs747415803
NM_031885.5(BBS2):c.1440A>C (p.Arg480=) rs2144139348
NM_031885.5(BBS2):c.1443C>T (p.Phe481=) rs2144139337
NM_031885.5(BBS2):c.1446C>T (p.Ser482=)
NM_031885.5(BBS2):c.144G>A (p.Arg48=)
NM_031885.5(BBS2):c.1452T>C (p.Tyr484=)
NM_031885.5(BBS2):c.1455G>A (p.Ala485=) rs749317806
NM_031885.5(BBS2):c.1467G>A (p.Leu489=)
NM_031885.5(BBS2):c.147C>T (p.Asn49=)
NM_031885.5(BBS2):c.1482G>A (p.Glu494=)
NM_031885.5(BBS2):c.1485A>T (p.Pro495=)
NM_031885.5(BBS2):c.1494T>C (p.Tyr498=) rs889525343
NM_031885.5(BBS2):c.1500C>T (p.Asn500=) rs2144139077
NM_031885.5(BBS2):c.1506C>A (p.Thr502=)
NM_031885.5(BBS2):c.1512A>G (p.Ala504=)
NM_031885.5(BBS2):c.1515A>G (p.Glu505=)
NM_031885.5(BBS2):c.1521A>G (p.Ala507=)
NM_031885.5(BBS2):c.1524G>A (p.Gln508=) rs2144138957
NM_031885.5(BBS2):c.1527+11C>T
NM_031885.5(BBS2):c.1527+18C>T
NM_031885.5(BBS2):c.1527+19T>G
NM_031885.5(BBS2):c.1527+20C>G
NM_031885.5(BBS2):c.1528-16T>C rs1430495735
NM_031885.5(BBS2):c.1528-19C>A
NM_031885.5(BBS2):c.1528-4C>G
NM_031885.5(BBS2):c.1528-4C>T rs1964177299
NM_031885.5(BBS2):c.1528-7T>C rs1597013039
NM_031885.5(BBS2):c.1528-9A>G rs2144135110
NM_031885.5(BBS2):c.153T>C (p.His51=)
NM_031885.5(BBS2):c.1542C>G (p.Leu514=)
NM_031885.5(BBS2):c.1551C>T (p.Asn517=) rs1306411366
NM_031885.5(BBS2):c.1557G>A (p.Leu519=) rs925476146
NM_031885.5(BBS2):c.1558T>C (p.Leu520=) rs2144134913
NM_031885.5(BBS2):c.1569C>T (p.Asp523=)
NM_031885.5(BBS2):c.156C>T (p.Val52=) rs1468099662
NM_031885.5(BBS2):c.1590A>G (p.Pro530=)
NM_031885.5(BBS2):c.1599G>A (p.Val533=)
NM_031885.5(BBS2):c.1626C>T (p.Gly542=)
NM_031885.5(BBS2):c.1629C>T (p.His543=) rs2144134595
NM_031885.5(BBS2):c.162A>G (p.Ala54=) rs2144193619
NM_031885.5(BBS2):c.1632G>T (p.Leu544=) rs2144134579
NM_031885.5(BBS2):c.1650T>C (p.Leu550=)
NM_031885.5(BBS2):c.1659+10A>G
NM_031885.5(BBS2):c.1659+11A>C
NM_031885.5(BBS2):c.1659+17C>T
NM_031885.5(BBS2):c.165C>T (p.Ser55=) rs2144193611
NM_031885.5(BBS2):c.1660-13_1660-11del
NM_031885.5(BBS2):c.1660-16T>C
NM_031885.5(BBS2):c.1660-17A>G
NM_031885.5(BBS2):c.1660-17_1660-16del rs762198535
NM_031885.5(BBS2):c.1660-18T>C
NM_031885.5(BBS2):c.1660-9T>G
NM_031885.5(BBS2):c.1662C>T (p.Ile554=) rs774112668
NM_031885.5(BBS2):c.1671T>C (p.Asn557=)
NM_031885.5(BBS2):c.1674T>C (p.Thr558=)
NM_031885.5(BBS2):c.1686T>C (p.Asp562=) rs1382087682
NM_031885.5(BBS2):c.1695T>A (p.Gly565=)
NM_031885.5(BBS2):c.1716A>G (p.Ala572=) rs2144132647
NM_031885.5(BBS2):c.1719A>G (p.Ser573=)
NM_031885.5(BBS2):c.1728T>C (p.Ala576=) rs2144132596
NM_031885.5(BBS2):c.1731T>C (p.Ile577=)
NM_031885.5(BBS2):c.1746A>G (p.Val582=)
NM_031885.5(BBS2):c.1752G>A (p.Ala584=)
NM_031885.5(BBS2):c.1758T>C (p.Phe586=)
NM_031885.5(BBS2):c.1776A>G (p.Glu592=) rs2144132413
NM_031885.5(BBS2):c.1791A>C (p.Leu597=) rs2144132339
NM_031885.5(BBS2):c.1794T>A (p.Val598=)
NM_031885.5(BBS2):c.1797+14G>T
NM_031885.5(BBS2):c.1797+17G>A
NM_031885.5(BBS2):c.1797+7del rs764642655
NM_031885.5(BBS2):c.1798-10T>C rs1964135497
NM_031885.5(BBS2):c.1798-18A>G
NM_031885.5(BBS2):c.1800G>T (p.Val600=)
NM_031885.5(BBS2):c.1806A>G (p.Glu602=) rs1597011884
NM_031885.5(BBS2):c.180C>T (p.Ser60=)
NM_031885.5(BBS2):c.1812T>C (p.His604=)
NM_031885.5(BBS2):c.1818G>A (p.Val606=) rs1964134267
NM_031885.5(BBS2):c.1836T>C (p.Ala612=)
NM_031885.5(BBS2):c.1839T>C (p.Asp613=)
NM_031885.5(BBS2):c.1845T>C (p.Ala615=) rs1964133464
NM_031885.5(BBS2):c.1857T>C (p.Asn619=)
NM_031885.5(BBS2):c.1873C>T (p.Leu625=) rs2144130003
NM_031885.5(BBS2):c.1878C>G (p.Val626=)
NM_031885.5(BBS2):c.1899G>C (p.Leu633=)
NM_031885.5(BBS2):c.1911-10dup
NM_031885.5(BBS2):c.1911-14A>C
NM_031885.5(BBS2):c.1911-6G>A rs1000103343
NM_031885.5(BBS2):c.1911-8T>G rs1260335822
NM_031885.5(BBS2):c.1944T>C (p.Tyr648=) rs1014315603
NM_031885.5(BBS2):c.1950T>A (p.Leu650=)
NM_031885.5(BBS2):c.195T>C (p.Asp65=)
NM_031885.5(BBS2):c.1974T>C (p.Tyr658=) rs895581773
NM_031885.5(BBS2):c.1998A>G (p.Thr666=)
NM_031885.5(BBS2):c.2002C>T (p.Leu668=) rs2144095506
NM_031885.5(BBS2):c.2005T>C (p.Leu669=)
NM_031885.5(BBS2):c.2019A>G (p.Lys673=)
NM_031885.5(BBS2):c.2025A>G (p.Val675=)
NM_031885.5(BBS2):c.2028T>C (p.Asn676=) rs1449284374
NM_031885.5(BBS2):c.2046A>C (p.Ala682=) rs2144095335
NM_031885.5(BBS2):c.2049T>A (p.Gly683=)
NM_031885.5(BBS2):c.2055G>A (p.Leu685=)
NM_031885.5(BBS2):c.2059+12_2059+13del rs746917866
NM_031885.5(BBS2):c.2059+15A>T rs571449292
NM_031885.5(BBS2):c.2059+19_2059+20insT
NM_031885.5(BBS2):c.2059+7C>T
NM_031885.5(BBS2):c.2059+8T>G
NM_031885.5(BBS2):c.2060-10T>C rs2144093380
NM_031885.5(BBS2):c.2060-18A>T
NM_031885.5(BBS2):c.2060-4G>A rs1963731219
NM_031885.5(BBS2):c.2060-6A>G
NM_031885.5(BBS2):c.2060-7T>C
NM_031885.5(BBS2):c.2060-8T>C rs2144093365
NM_031885.5(BBS2):c.2060-8_2060-5del rs1321033053
NM_031885.5(BBS2):c.2060-9C>T rs2144093372
NM_031885.5(BBS2):c.2060-9_2060-7del rs754879154
NM_031885.5(BBS2):c.2064A>G (p.Gly688=)
NM_031885.5(BBS2):c.2067A>G (p.Lys689=)
NM_031885.5(BBS2):c.2091T>G (p.Ala697=) rs1412519720
NM_031885.5(BBS2):c.2106T>A (p.Ile702=)
NM_031885.5(BBS2):c.2106T>C (p.Ile702=) rs1314393067
NM_031885.5(BBS2):c.2121C>T (p.Ile707=)
NM_031885.5(BBS2):c.2130G>A (p.Leu710=)
NM_031885.5(BBS2):c.2139C>T (p.Ile713=) rs764866796
NM_031885.5(BBS2):c.213T>A (p.Ile71=) rs2144193392
NM_031885.5(BBS2):c.213T>C (p.Ile71=) rs2144193392
NM_031885.5(BBS2):c.2151G>A (p.Gly717=)
NM_031885.5(BBS2):c.2157T>G (p.Ala719=) rs1380327569
NM_031885.5(BBS2):c.2160T>C (p.Ser720=) rs2144092904
NM_031885.5(BBS2):c.216C>T (p.Asn72=) rs375853147
NM_031885.5(BBS2):c.217C>G (p.Gln73Glu)
NM_031885.5(BBS2):c.21C>T (p.Thr7=) rs1311176453
NM_031885.5(BBS2):c.237T>A (p.Thr79=) rs756639098
NM_031885.5(BBS2):c.240A>G (p.Ala80=)
NM_031885.5(BBS2):c.243C>A (p.Gly81=) rs368760651
NM_031885.5(BBS2):c.243C>T (p.Gly81=)
NM_031885.5(BBS2):c.247T>C (p.Leu83=) rs1567584842
NM_031885.5(BBS2):c.24G>A (p.Leu8=)
NM_031885.5(BBS2):c.258G>A (p.Glu86=)
NM_031885.5(BBS2):c.267T>C (p.Tyr89=) rs2144193050
NM_031885.5(BBS2):c.270T>C (p.Asp90=)
NM_031885.5(BBS2):c.277T>C (p.Leu93=)
NM_031885.5(BBS2):c.27A>G (p.Lys9=)
NM_031885.5(BBS2):c.285G>A (p.Gly95=) rs752531652
NM_031885.5(BBS2):c.288A>G (p.Thr96=) rs2144192963
NM_031885.5(BBS2):c.28C>T (p.Leu10=)
NM_031885.5(BBS2):c.291G>A (p.Gln97=)
NM_031885.5(BBS2):c.297T>C (p.Asn99=) rs2144192928
NM_031885.5(BBS2):c.306T>C (p.Ala102=)
NM_031885.5(BBS2):c.312T>C (p.Asp104=)
NM_031885.5(BBS2):c.315C>G (p.Val105=)
NM_031885.5(BBS2):c.318C>T (p.Tyr106=)
NM_031885.5(BBS2):c.339C>T (p.Tyr113=)
NM_031885.5(BBS2):c.342A>G (p.Arg114=) rs2144192731
NM_031885.5(BBS2):c.345+10A>G rs770249850
NM_031885.5(BBS2):c.345+11C>T
NM_031885.5(BBS2):c.345+12C>T rs2144192648
NM_031885.5(BBS2):c.345+15del
NM_031885.5(BBS2):c.345+16A>G
NM_031885.5(BBS2):c.345+17T>C
NM_031885.5(BBS2):c.345+8T>C
NM_031885.5(BBS2):c.346-11A>G
NM_031885.5(BBS2):c.346-12T>A
NM_031885.5(BBS2):c.346-20T>C
NM_031885.5(BBS2):c.346-5C>T
NM_031885.5(BBS2):c.357G>T (p.Gly119=)
NM_031885.5(BBS2):c.366A>C (p.Ala122=) rs1191119235
NM_031885.5(BBS2):c.381A>G (p.Thr127=)
NM_031885.5(BBS2):c.399C>A (p.Ser133=)
NM_031885.5(BBS2):c.399C>T (p.Ser133=)
NM_031885.5(BBS2):c.405T>C (p.Leu135=)
NM_031885.5(BBS2):c.405T>G (p.Leu135=) rs2144181808
NM_031885.5(BBS2):c.420C>T (p.Gly140=)
NM_031885.5(BBS2):c.429T>C (p.Ala143=) rs2144181653
NM_031885.5(BBS2):c.432G>T (p.Leu144=) rs2144181642
NM_031885.5(BBS2):c.441C>T (p.Phe147=) rs2144181587
NM_031885.5(BBS2):c.453A>G (p.Gly151=) rs144460758
NM_031885.5(BBS2):c.45C>T (p.Ser15=) rs1354385806
NM_031885.5(BBS2):c.462C>A (p.Leu154=)
NM_031885.5(BBS2):c.471+10A>C rs1342804095
NM_031885.5(BBS2):c.471+12A>G
NM_031885.5(BBS2):c.471+14A>C
NM_031885.5(BBS2):c.472-18T>C
NM_031885.5(BBS2):c.472-6T>C rs2144180463
NM_031885.5(BBS2):c.486T>C (p.Asn162=)
NM_031885.5(BBS2):c.495C>T (p.Ser165=)
NM_031885.5(BBS2):c.501C>G (p.Ala167=) rs1398338388
NM_031885.5(BBS2):c.501C>T (p.Ala167=) rs1398338388
NM_031885.5(BBS2):c.516T>C (p.Asp172=) rs1387025266
NM_031885.5(BBS2):c.519T>C (p.Gly173=)
NM_031885.5(BBS2):c.51A>T (p.Arg17=)
NM_031885.5(BBS2):c.522T>C (p.Asp174=)
NM_031885.5(BBS2):c.528G>A (p.Lys176=)
NM_031885.5(BBS2):c.534+10G>A rs1207740034
NM_031885.5(BBS2):c.534+11G>T
NM_031885.5(BBS2):c.534+17A>G
NM_031885.5(BBS2):c.534+18T>C
NM_031885.5(BBS2):c.534+19A>C rs930327101
NM_031885.5(BBS2):c.534+19A>G
NM_031885.5(BBS2):c.534+7G>T rs886052149
NM_031885.5(BBS2):c.534+9G>A
NM_031885.5(BBS2):c.534+9G>T rs2144180024
NM_031885.5(BBS2):c.535-16_535-14del
NM_031885.5(BBS2):c.535-18A>G
NM_031885.5(BBS2):c.535-20G>C
NM_031885.5(BBS2):c.535-6C>T rs2144177148
NM_031885.5(BBS2):c.535-6del rs1237158483
NM_031885.5(BBS2):c.535-8C>T rs2144177202
NM_031885.5(BBS2):c.535-9C>T rs2144177223
NM_031885.5(BBS2):c.537T>A (p.Leu179=) rs1450648224
NM_031885.5(BBS2):c.564C>A (p.Ile188=)
NM_031885.5(BBS2):c.564C>T (p.Ile188=)
NM_031885.5(BBS2):c.573T>C (p.Phe191=) rs2144176995
NM_031885.5(BBS2):c.57G>A (p.Val19=)
NM_031885.5(BBS2):c.588T>C (p.Ile196=)
NM_031885.5(BBS2):c.60C>T (p.Ala20=)
NM_031885.5(BBS2):c.612+14C>T rs770986334
NM_031885.5(BBS2):c.612+16T>A
NM_031885.5(BBS2):c.612+17C>G rs745726316
NM_031885.5(BBS2):c.612+18G>T rs200364314
NM_031885.5(BBS2):c.612+7A>G
NM_031885.5(BBS2):c.613-11T>C
NM_031885.5(BBS2):c.615A>T (p.Ile205=)
NM_031885.5(BBS2):c.618C>T (p.Val206=)
NM_031885.5(BBS2):c.621C>T (p.Thr207=) rs1481865252
NM_031885.5(BBS2):c.627T>C (p.Leu209=) rs752010652
NM_031885.5(BBS2):c.633C>G (p.Pro211=)
NM_031885.5(BBS2):c.633C>T (p.Pro211=)
NM_031885.5(BBS2):c.654T>C (p.Gly218=)
NM_031885.5(BBS2):c.660C>G (p.Ala220=)
NM_031885.5(BBS2):c.666C>T (p.Ser222=)
NM_031885.5(BBS2):c.672C>G (p.Gly224=)
NM_031885.5(BBS2):c.672C>T (p.Gly224=)
NM_031885.5(BBS2):c.675A>C (p.Thr225=) rs2144162957
NM_031885.5(BBS2):c.681A>G (p.Gly227=) rs2144162940
NM_031885.5(BBS2):c.684T>A (p.Val228=) rs2144162919
NM_031885.5(BBS2):c.69C>T (p.Arg23=)
NM_031885.5(BBS2):c.705C>T (p.Tyr235=)
NM_031885.5(BBS2):c.711A>G (p.Arg237=) rs2144162775
NM_031885.5(BBS2):c.717+17C>T
NM_031885.5(BBS2):c.717+7A>G rs2144162735
NM_031885.5(BBS2):c.718-10T>C rs2144162525
NM_031885.5(BBS2):c.718-19T>G
NM_031885.5(BBS2):c.718-4T>G rs1265021801
NM_031885.5(BBS2):c.718-9C>A rs2144162512
NM_031885.5(BBS2):c.723A>G (p.Lys241=)
NM_031885.5(BBS2):c.726T>C (p.Asn242=) rs1481166462
NM_031885.5(BBS2):c.750T>C (p.Phe250=)
NM_031885.5(BBS2):c.75C>T (p.Asp25=) rs1964868134
NM_031885.5(BBS2):c.768A>C (p.Gly256=) rs2144162236
NM_031885.5(BBS2):c.780G>A (p.Leu260=)
NM_031885.5(BBS2):c.780G>C (p.Leu260=)
NM_031885.5(BBS2):c.786T>G (p.Thr262=)
NM_031885.5(BBS2):c.795C>T (p.Ser265=) rs1172637602
NM_031885.5(BBS2):c.801G>A (p.Gly267=)
NM_031885.5(BBS2):c.801G>T (p.Gly267=)
NM_031885.5(BBS2):c.804+15C>G
NM_031885.5(BBS2):c.804+17A>G
NM_031885.5(BBS2):c.804+7T>G rs2144162020
NM_031885.5(BBS2):c.805-10T>A
NM_031885.5(BBS2):c.805-10T>G rs2144150878
NM_031885.5(BBS2):c.805-15G>A
NM_031885.5(BBS2):c.807T>C (p.Val269=) rs2144150832
NM_031885.5(BBS2):c.813T>C (p.Ala271=)
NM_031885.5(BBS2):c.816A>G (p.Arg272=) rs1471030773
NM_031885.5(BBS2):c.822C>T (p.Asp274=) rs2144150744
NM_031885.5(BBS2):c.823C>A (p.Arg275=)
NM_031885.5(BBS2):c.840C>T (p.Ile280=) rs1207765703
NM_031885.5(BBS2):c.861T>C (p.Ser287=)
NM_031885.5(BBS2):c.864A>C (p.Ala288=) rs1340236108
NM_031885.5(BBS2):c.87G>A (p.Pro29=) rs2144214387
NM_031885.5(BBS2):c.882G>A (p.Glu294=) rs2144150392
NM_031885.5(BBS2):c.912G>A (p.Gln304=) rs2144150234
NM_031885.5(BBS2):c.940+18A>G
NM_031885.5(BBS2):c.940+20A>G
NM_031885.5(BBS2):c.941-10T>C
NM_031885.5(BBS2):c.941-19G>A
NM_031885.5(BBS2):c.941-20G>T
NM_031885.5(BBS2):c.941-4del rs1964302734
NM_031885.5(BBS2):c.941-6G>T
NM_031885.5(BBS2):c.941-8C>G rs373354290
NM_031885.5(BBS2):c.941-8C>T rs373354290
NM_031885.5(BBS2):c.960C>G (p.Gly320=) rs369415186
NM_031885.5(BBS2):c.960C>T (p.Gly320=)
NM_031885.5(BBS2):c.969G>A (p.Glu323=)
NM_031885.5(BBS2):c.975G>A (p.Arg325=) rs1276623881
NM_031885.5(BBS2):c.984C>T (p.Leu328=) rs1285508370
NM_031885.5(BBS2):c.990C>T (p.Asp330=) rs2144148961
NM_031885.5(BBS2):c.993C>T (p.Thr331=) rs1964300336
NM_031885.5(BBS2):c.999A>T (p.Ala333=) rs1964300041
NM_031885.5(BBS2):c.99C>G (p.Ala33=)
NM_031885.5(BBS2):c.9G>T (p.Leu3=)

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