ClinVar Miner

List of variants in gene BBS2 reported as likely benign by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 500
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.1659+18G>A rs371421381 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.1238G>A (p.Arg413Gln) rs141683908 0.00031
NM_031885.5(BBS2):c.995G>A (p.Ser332Asn) rs199655331 0.00030
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 0.00017
NM_031885.5(BBS2):c.217C>G (p.Gln73Glu) rs199940492 0.00011
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 0.00008
NM_031885.5(BBS2):c.1226-11C>T rs371851180 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.1209C>T (p.Arg403=) rs747086491 0.00005
NM_031885.5(BBS2):c.1797+13G>A rs769739310 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.1798-11A>G rs374344685 0.00004
NM_031885.5(BBS2):c.531A>G (p.Lys177=) rs558360994 0.00004
NM_031885.5(BBS2):c.963G>A (p.Thr321=) rs748014865 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.1527+13C>T rs756219595 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.1225+19C>T rs564848200 0.00002
NM_031885.5(BBS2):c.1470C>T (p.Asp490=) rs370024579 0.00002
NM_031885.5(BBS2):c.1527+18C>T rs1222343879 0.00002
NM_031885.5(BBS2):c.1530T>G (p.Val510=) rs545597883 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.2088T>C (p.Thr696=) rs886052144 0.00002
NM_031885.5(BBS2):c.382T>C (p.Leu128=) rs374060552 0.00002
NM_031885.5(BBS2):c.612+16T>A rs2543729475 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.801G>T (p.Gly267=) rs768698703 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+18T>C rs773134471 0.00001
NM_031885.5(BBS2):c.1080+7G>A rs1161249297 0.00001
NM_031885.5(BBS2):c.1080+9A>G rs1389833648 0.00001
NM_031885.5(BBS2):c.1083T>A (p.Ala361=) rs951758684 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.1158G>A (p.Thr386=) rs199944942 0.00001
NM_031885.5(BBS2):c.117+16C>G rs540688936 0.00001
NM_031885.5(BBS2):c.117+17G>T rs201119943 0.00001
NM_031885.5(BBS2):c.117+19A>C rs945280815 0.00001
NM_031885.5(BBS2):c.117+9T>C rs1441696767 0.00001
NM_031885.5(BBS2):c.1171C>T (p.Leu391=) rs752474817 0.00001
NM_031885.5(BBS2):c.118-15T>C rs767696418 0.00001
NM_031885.5(BBS2):c.118-17A>C rs189431371 0.00001
NM_031885.5(BBS2):c.1225+12C>T rs1964265794 0.00001
NM_031885.5(BBS2):c.1225+16C>T rs774382271 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.1326C>T (p.Cys442=) rs1478971000 0.00001
NM_031885.5(BBS2):c.1329C>T (p.Ile443=) rs1244466598 0.00001
NM_031885.5(BBS2):c.1397+7C>A rs771297840 0.00001
NM_031885.5(BBS2):c.1398-7G>T rs2144139575 0.00001
NM_031885.5(BBS2):c.1437T>C (p.Pro479=) rs747415803 0.00001
NM_031885.5(BBS2):c.1456C>T (p.Leu486=) rs780493609 0.00001
NM_031885.5(BBS2):c.1458G>A (p.Leu486=) rs756379392 0.00001
NM_031885.5(BBS2):c.1467G>A (p.Leu489=) rs1264301102 0.00001
NM_031885.5(BBS2):c.1494T>C (p.Tyr498=) rs889525343 0.00001
NM_031885.5(BBS2):c.1521A>G (p.Ala507=) rs1442813475 0.00001
NM_031885.5(BBS2):c.1527+11C>T rs749432450 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.1599G>A (p.Val533=) rs1315793435 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+17C>T rs372523322 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.1660-16T>C rs1462895887 0.00001
NM_031885.5(BBS2):c.1660-17A>G rs773367991 0.00001
NM_031885.5(BBS2):c.1719A>G (p.Ser573=) rs550499596 0.00001
NM_031885.5(BBS2):c.1746A>G (p.Val582=) rs1964155579 0.00001
NM_031885.5(BBS2):c.1752G>A (p.Ala584=) rs1488820299 0.00001
NM_031885.5(BBS2):c.1777T>C (p.Leu593=) rs767778599 0.00001
NM_031885.5(BBS2):c.1797+17G>A rs374703281 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.2005T>C (p.Leu669=) rs774115639 0.00001
NM_031885.5(BBS2):c.2025A>G (p.Val675=) rs939765873 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.2060-6A>G rs1226649220 0.00001
NM_031885.5(BBS2):c.2060-8T>C rs2144093365 0.00001
NM_031885.5(BBS2):c.2106T>A (p.Ile702=) rs1314393067 0.00001
NM_031885.5(BBS2):c.247T>C (p.Leu83=) rs1567584842 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.51A>T (p.Arg17=) rs1964869336 0.00001
NM_031885.5(BBS2):c.528G>A (p.Lys176=) rs751016391 0.00001
NM_031885.5(BBS2):c.534+13G>A rs748319105 0.00001
NM_031885.5(BBS2):c.534+18T>C rs1048987667 0.00001
NM_031885.5(BBS2):c.534+7G>C rs886052149 0.00001
NM_031885.5(BBS2):c.535-18A>G rs764918423 0.00001
NM_031885.5(BBS2):c.535-19T>C rs752429862 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.60C>T (p.Ala20=) rs1454752754 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.613-11T>C rs1410677685 0.00001
NM_031885.5(BBS2):c.660C>G (p.Ala220=) rs1447227184 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.718-9C>A rs2144162512 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.786T>G (p.Thr262=) rs1964411327 0.00001
NM_031885.5(BBS2):c.78G>A (p.Gly26=) rs759629466 0.00001
NM_031885.5(BBS2):c.805-15G>A rs751391305 0.00001
NM_031885.5(BBS2):c.810T>C (p.Asp270=) rs1309546092 0.00001
NM_031885.5(BBS2):c.819T>C (p.Ser273=) rs550992948 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.941-19G>A rs772864344 0.00001
NM_031885.5(BBS2):c.945G>A (p.Arg315=) rs2288057 0.00001
NM_031885.5(BBS2):c.960C>G (p.Gly320=) rs369415186 0.00001
NM_031885.5(BBS2):c.9G>T (p.Leu3=) rs1964870902 0.00001
NM_031885.5(BBS2):c.1008C>T (p.Asp336=) rs2144148893
NM_031885.5(BBS2):c.1014C>T (p.Ile338=) rs1331637717
NM_031885.5(BBS2):c.1038G>A (p.Gln346=) rs2543712599
NM_031885.5(BBS2):c.1042C>T (p.Leu348=) rs1407743093
NM_031885.5(BBS2):c.1065T>C (p.Tyr355=) rs2144148677
NM_031885.5(BBS2):c.1080+10G>A rs2144148576
NM_031885.5(BBS2):c.1080+10G>C rs2144148576
NM_031885.5(BBS2):c.1080+11G>T rs1400919089
NM_031885.5(BBS2):c.1080+18dup rs1964297139
NM_031885.5(BBS2):c.1080+8T>G rs2543712409
NM_031885.5(BBS2):c.1081-14G>C rs2543709721
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=) rs1420277794
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 rs1567588665
NM_031885.5(BBS2):c.117+12C>T rs2543755513
NM_031885.5(BBS2):c.117+15C>G rs765794155
NM_031885.5(BBS2):c.117+16C>T rs540688936
NM_031885.5(BBS2):c.117+19A>T rs945280815
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.1179T>C (p.Asn393=) rs2144145352
NM_031885.5(BBS2):c.118-13A>G rs2543742113
NM_031885.5(BBS2):c.118-16G>T rs2543742145
NM_031885.5(BBS2):c.118-16_118-13del rs758674101
NM_031885.5(BBS2):c.118-8T>G rs2543742110
NM_031885.5(BBS2):c.1197T>C (p.His399=) rs758097463
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 rs1597015665
NM_031885.5(BBS2):c.1225+10T>C rs1597015665
NM_031885.5(BBS2):c.1225+11A>G rs2543708948
NM_031885.5(BBS2):c.1225+14C>T rs2543708936
NM_031885.5(BBS2):c.1226-11C>G rs371851180
NM_031885.5(BBS2):c.1226-18T>A
NM_031885.5(BBS2):c.1226-4G>A rs2543707990
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=) rs2543707956
NM_031885.5(BBS2):c.1242A>G (p.Ala414=) rs2543707931
NM_031885.5(BBS2):c.1260A>G (p.Glu420=) rs2144143564
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.1323C>T (p.Ile441=) rs759783261
NM_031885.5(BBS2):c.1353C>A (p.Val451=)
NM_031885.5(BBS2):c.1353C>T (p.Val451=) rs2543707540
NM_031885.5(BBS2):c.1368C>T (p.His456=) rs2144143152
NM_031885.5(BBS2):c.1369T>C (p.Leu457=) rs2543707485
NM_031885.5(BBS2):c.1389C>T (p.Tyr463=) rs1128808
NM_031885.5(BBS2):c.1397+10T>G rs2543707319
NM_031885.5(BBS2):c.1397+15G>A rs2543707303
NM_031885.5(BBS2):c.1397+7C>T rs771297840
NM_031885.5(BBS2):c.1397+9T>C rs2543707349
NM_031885.5(BBS2):c.1397+9_1397+10dup
NM_031885.5(BBS2):c.1398-10T>C rs2543704662
NM_031885.5(BBS2):c.1398-14T>C rs2543704675
NM_031885.5(BBS2):c.1398-4A>G rs2543704631
NM_031885.5(BBS2):c.1398-5C>T rs1393735395
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=) rs971361314
NM_031885.5(BBS2):c.1419A>G (p.Glu473=) rs2543704552
NM_031885.5(BBS2):c.1422G>C (p.Ser474=) rs117033008
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=) rs2543704525
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=) rs1283642215
NM_031885.5(BBS2):c.144G>A (p.Arg48=) rs2543741966
NM_031885.5(BBS2):c.1452T>C (p.Tyr484=) rs2543704446
NM_031885.5(BBS2):c.1455G>A (p.Ala485=) rs749317806
NM_031885.5(BBS2):c.147C>T (p.Asn49=) rs2543741951
NM_031885.5(BBS2):c.1482G>A (p.Glu494=) rs1964210728
NM_031885.5(BBS2):c.1485A>T (p.Pro495=) rs2543704363
NM_031885.5(BBS2):c.1500C>T (p.Asn500=) rs2144139077
NM_031885.5(BBS2):c.1506C>A (p.Thr502=) rs1049924092
NM_031885.5(BBS2):c.1512A>G (p.Ala504=) rs1964209552
NM_031885.5(BBS2):c.1515A>G (p.Glu505=) rs2543704234
NM_031885.5(BBS2):c.1524G>A (p.Gln508=) rs2144138957
NM_031885.5(BBS2):c.1527+19T>C
NM_031885.5(BBS2):c.1527+19T>G rs1159701065
NM_031885.5(BBS2):c.1527+20C>G rs2543704128
NM_031885.5(BBS2):c.1528-16T>C rs1430495735
NM_031885.5(BBS2):c.1528-19C>A rs2543700771
NM_031885.5(BBS2):c.1528-4C>G rs1964177299
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=) rs2543741941
NM_031885.5(BBS2):c.1542C>G (p.Leu514=) rs374156464
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=) rs2543700524
NM_031885.5(BBS2):c.156C>T (p.Val52=) rs1468099662
NM_031885.5(BBS2):c.1590A>G (p.Pro530=) rs1296939877
NM_031885.5(BBS2):c.1590A>T (p.Pro530=)
NM_031885.5(BBS2):c.1626C>T (p.Gly542=) rs2543700266
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=) rs2543700188
NM_031885.5(BBS2):c.1659+10A>G rs2543700110
NM_031885.5(BBS2):c.1659+11A>C rs2543700100
NM_031885.5(BBS2):c.165C>G (p.Ser55=)
NM_031885.5(BBS2):c.165C>T (p.Ser55=) rs2144193611
NM_031885.5(BBS2):c.1660-12T>A
NM_031885.5(BBS2):c.1660-13_1660-11del rs2543698712
NM_031885.5(BBS2):c.1660-17A>T
NM_031885.5(BBS2):c.1660-17_1660-16del rs762198535
NM_031885.5(BBS2):c.1660-18T>C rs1418394673
NM_031885.5(BBS2):c.1660-9T>G rs2543698693
NM_031885.5(BBS2):c.1662C>T (p.Ile554=) rs774112668
NM_031885.5(BBS2):c.1671T>C (p.Asn557=) rs2543698644
NM_031885.5(BBS2):c.1674T>C (p.Thr558=) rs779980535
NM_031885.5(BBS2):c.1686T>C (p.Asp562=) rs1382087682
NM_031885.5(BBS2):c.1695T>A (p.Gly565=) rs1397960118
NM_031885.5(BBS2):c.1701C>A (p.Ile567=)
NM_031885.5(BBS2):c.1716A>G (p.Ala572=) rs2144132647
NM_031885.5(BBS2):c.1728T>C (p.Ala576=) rs2144132596
NM_031885.5(BBS2):c.1731T>C (p.Ile577=) rs2543698437
NM_031885.5(BBS2):c.1758T>C (p.Phe586=) rs2543698342
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=) rs2543698177
NM_031885.5(BBS2):c.1797+14G>T rs1333669328
NM_031885.5(BBS2):c.1797+20G>T
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 rs1324625065
NM_031885.5(BBS2):c.1800G>T (p.Val600=) rs556713242
NM_031885.5(BBS2):c.1806A>G (p.Glu602=) rs1597011884
NM_031885.5(BBS2):c.180C>T (p.Ser60=) rs2543741833
NM_031885.5(BBS2):c.1812T>C (p.His604=) rs2543695607
NM_031885.5(BBS2):c.1818G>A (p.Val606=) rs1964134267
NM_031885.5(BBS2):c.1836T>C (p.Ala612=) rs2543695516
NM_031885.5(BBS2):c.1839T>C (p.Asp613=) rs921965548
NM_031885.5(BBS2):c.1845T>C (p.Ala615=) rs1964133464
NM_031885.5(BBS2):c.1857T>C (p.Asn619=) rs2543695396
NM_031885.5(BBS2):c.1873C>T (p.Leu625=) rs2144130003
NM_031885.5(BBS2):c.1878C>G (p.Val626=) rs555264290
NM_031885.5(BBS2):c.1899G>C (p.Leu633=) rs2543695217
NM_031885.5(BBS2):c.1911-10dup rs2543672726
NM_031885.5(BBS2):c.1911-14A>C rs2543672736
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=) rs752978565
NM_031885.5(BBS2):c.195T>C (p.Asp65=) rs2543741780
NM_031885.5(BBS2):c.1974T>C (p.Tyr658=) rs895581773
NM_031885.5(BBS2):c.1998A>G (p.Thr666=) rs2543672357
NM_031885.5(BBS2):c.2002C>T (p.Leu668=) rs2144095506
NM_031885.5(BBS2):c.2016C>G (p.Leu672=) rs768160656
NM_031885.5(BBS2):c.2019A>G (p.Lys673=) rs1963754919
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=) rs11555776
NM_031885.5(BBS2):c.2055G>A (p.Leu685=) rs2543672177
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 rs2543672061
NM_031885.5(BBS2):c.2059+7C>T rs113740983
NM_031885.5(BBS2):c.2059+8T>G rs2543672114
NM_031885.5(BBS2):c.2060-10T>C rs2144093380
NM_031885.5(BBS2):c.2060-10del
NM_031885.5(BBS2):c.2060-18A>T rs773836403
NM_031885.5(BBS2):c.2060-4G>A rs1963731219
NM_031885.5(BBS2):c.2060-7T>C rs1294158153
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=) rs2543670481
NM_031885.5(BBS2):c.2067A>G (p.Lys689=) rs1963730656
NM_031885.5(BBS2):c.2091T>G (p.Ala697=) rs1412519720
NM_031885.5(BBS2):c.2106T>C (p.Ile702=) rs1314393067
NM_031885.5(BBS2):c.2121C>T (p.Ile707=) rs1033576905
NM_031885.5(BBS2):c.2130G>A (p.Leu710=) rs2543670223
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=) rs1374151749
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.21C>T (p.Thr7=) rs1311176453
NM_031885.5(BBS2):c.237T>A (p.Thr79=) rs756639098
NM_031885.5(BBS2):c.240A>G (p.Ala80=) rs201475783
NM_031885.5(BBS2):c.243C>A (p.Gly81=) rs368760651
NM_031885.5(BBS2):c.243C>T (p.Gly81=) rs368760651
NM_031885.5(BBS2):c.24G>A (p.Leu8=) rs2543756084
NM_031885.5(BBS2):c.258G>A (p.Glu86=) rs1567584829
NM_031885.5(BBS2):c.267T>C (p.Tyr89=) rs2144193050
NM_031885.5(BBS2):c.270T>C (p.Asp90=) rs2543741415
NM_031885.5(BBS2):c.273C>A (p.Ala91=) rs1181643265
NM_031885.5(BBS2):c.277T>C (p.Leu93=) rs2543741389
NM_031885.5(BBS2):c.27A>G (p.Lys9=) rs2543756074
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=) rs2543756063
NM_031885.5(BBS2):c.291G>A (p.Gln97=) rs2543741306
NM_031885.5(BBS2):c.297T>C (p.Asn99=) rs2144192928
NM_031885.5(BBS2):c.301T>C (p.Leu101=)
NM_031885.5(BBS2):c.306T>C (p.Ala102=) rs2543741231
NM_031885.5(BBS2):c.312T>C (p.Asp104=) rs2543741175
NM_031885.5(BBS2):c.315C>G (p.Val105=) rs2543741152
NM_031885.5(BBS2):c.318C>T (p.Tyr106=) rs1964675433
NM_031885.5(BBS2):c.339C>T (p.Tyr113=) rs2543741059
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 rs2543740959
NM_031885.5(BBS2):c.345+12C>T rs2144192648
NM_031885.5(BBS2):c.345+15del rs1964673122
NM_031885.5(BBS2):c.345+16A>G rs541766778
NM_031885.5(BBS2):c.345+17T>C rs1964672872
NM_031885.5(BBS2):c.345+8T>C rs2543740990
NM_031885.5(BBS2):c.346-11A>G rs2543733763
NM_031885.5(BBS2):c.346-12T>A rs2543733774
NM_031885.5(BBS2):c.346-20T>C rs2543733810
NM_031885.5(BBS2):c.346-5C>T rs2543733743
NM_031885.5(BBS2):c.357G>T (p.Gly119=) rs2543733695
NM_031885.5(BBS2):c.366A>C (p.Ala122=) rs1191119235
NM_031885.5(BBS2):c.381A>G (p.Thr127=) rs2543733576
NM_031885.5(BBS2):c.399C>A (p.Ser133=) rs775477661
NM_031885.5(BBS2):c.399C>T (p.Ser133=) rs775477661
NM_031885.5(BBS2):c.405T>C (p.Leu135=) rs2144181808
NM_031885.5(BBS2):c.405T>G (p.Leu135=) rs2144181808
NM_031885.5(BBS2):c.420C>T (p.Gly140=) rs1369293430
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=) rs1964566339
NM_031885.5(BBS2):c.471+10A>C rs1342804095
NM_031885.5(BBS2):c.471+12A>G rs2543733188
NM_031885.5(BBS2):c.471+14A>C rs2543733175
NM_031885.5(BBS2):c.471+7A>G
NM_031885.5(BBS2):c.472-16G>A
NM_031885.5(BBS2):c.472-18T>C rs2543732492
NM_031885.5(BBS2):c.472-6T>C rs2144180463
NM_031885.5(BBS2):c.486T>C (p.Asn162=) rs2543732364
NM_031885.5(BBS2):c.495C>T (p.Ser165=) rs2543732340
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=) rs2543732222
NM_031885.5(BBS2):c.522T>C (p.Asp174=) rs767373822
NM_031885.5(BBS2):c.534+10G>A rs1207740034
NM_031885.5(BBS2):c.534+11G>T rs1964556526
NM_031885.5(BBS2):c.534+17A>G rs372085811
NM_031885.5(BBS2):c.534+19A>C rs930327101
NM_031885.5(BBS2):c.534+19A>G rs930327101
NM_031885.5(BBS2):c.534+7G>T rs886052149
NM_031885.5(BBS2):c.534+9G>A rs2144180024
NM_031885.5(BBS2):c.534+9G>T rs2144180024
NM_031885.5(BBS2):c.535-16_535-14del rs758981617
NM_031885.5(BBS2):c.535-20G>C rs1043239214
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=) rs2543729713
NM_031885.5(BBS2):c.564C>T (p.Ile188=) rs2543729713
NM_031885.5(BBS2):c.573T>C (p.Phe191=) rs2144176995
NM_031885.5(BBS2):c.57G>A (p.Val19=) rs2543755936
NM_031885.5(BBS2):c.588T>C (p.Ile196=) rs2543729621
NM_031885.5(BBS2):c.591G>A (p.Val197=)
NM_031885.5(BBS2):c.612+12C>T
NM_031885.5(BBS2):c.612+14C>T rs770986334
NM_031885.5(BBS2):c.612+17C>G rs745726316
NM_031885.5(BBS2):c.612+18G>T rs200364314
NM_031885.5(BBS2):c.612+20A>G
NM_031885.5(BBS2):c.612+7A>G rs2543729528
NM_031885.5(BBS2):c.613-13G>A
NM_031885.5(BBS2):c.615A>T (p.Ile205=) rs2543721543
NM_031885.5(BBS2):c.618C>T (p.Val206=) rs2543721538
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=) rs2543721475
NM_031885.5(BBS2):c.633C>T (p.Pro211=) rs2543721475
NM_031885.5(BBS2):c.654T>C (p.Gly218=) rs2543721395
NM_031885.5(BBS2):c.666C>T (p.Ser222=) rs2543721325
NM_031885.5(BBS2):c.672C>G (p.Gly224=) rs2543721301
NM_031885.5(BBS2):c.672C>T (p.Gly224=) rs2543721301
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=) rs1475023400
NM_031885.5(BBS2):c.705C>T (p.Tyr235=) rs2543721182
NM_031885.5(BBS2):c.711A>G (p.Arg237=) rs2144162775
NM_031885.5(BBS2):c.717+17C>T rs2543721113
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 rs748770884
NM_031885.5(BBS2):c.718-4T>G rs1265021801
NM_031885.5(BBS2):c.723A>G (p.Lys241=) rs35456666
NM_031885.5(BBS2):c.726T>C (p.Asn242=) rs1481166462
NM_031885.5(BBS2):c.750T>C (p.Phe250=) rs1964412267
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=) rs2543720643
NM_031885.5(BBS2):c.780G>C (p.Leu260=) rs2543720643
NM_031885.5(BBS2):c.795C>T (p.Ser265=) rs1172637602
NM_031885.5(BBS2):c.801G>A (p.Gly267=) rs768698703
NM_031885.5(BBS2):c.804+15C>G rs2543720501
NM_031885.5(BBS2):c.804+17A>G rs1251878242
NM_031885.5(BBS2):c.804+7T>G rs2144162020
NM_031885.5(BBS2):c.805-10T>A rs2144150878
NM_031885.5(BBS2):c.805-10T>G rs2144150878
NM_031885.5(BBS2):c.807T>C (p.Val269=) rs2144150832
NM_031885.5(BBS2):c.813T>C (p.Ala271=) rs2543714314
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=) rs121908177
NM_031885.5(BBS2):c.831G>A (p.Gly277=) rs1204202948
NM_031885.5(BBS2):c.840C>T (p.Ile280=) rs1207765703
NM_031885.5(BBS2):c.861T>C (p.Ser287=) rs1964312932
NM_031885.5(BBS2):c.864A>C (p.Ala288=) rs1340236108
NM_031885.5(BBS2):c.873T>G (p.Gly291=)
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 rs2543713669
NM_031885.5(BBS2):c.940+20A>G rs770196780
NM_031885.5(BBS2):c.941-10T>C rs1964303062
NM_031885.5(BBS2):c.941-20G>T rs760109919
NM_031885.5(BBS2):c.941-4del rs1964302734
NM_031885.5(BBS2):c.941-6G>T rs746397118
NM_031885.5(BBS2):c.941-8C>G rs373354290
NM_031885.5(BBS2):c.941-8C>T rs373354290
NM_031885.5(BBS2):c.960C>T (p.Gly320=) rs369415186
NM_031885.5(BBS2):c.969G>A (p.Glu323=) rs2543712897
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=) rs2543755674

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.