ClinVar Miner

List of variants in gene BBS2 studied for Bardet-Biedl syndrome 2; Retinitis pigmentosa 74

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 207
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.1110T>C (p.Ala370=) rs148990271 0.00389
NM_031885.5(BBS2):c.1081-18G>T rs142558653 0.00166
NM_031885.5(BBS2):c.358G>A (p.Ala120Thr) rs148808295 0.00030
NM_031885.5(BBS2):c.-2T>G rs111296910 0.00029
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.1080+14C>T rs375468475 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.471+17A>G rs200587401 0.00018
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.823C>T (p.Arg275Ter) rs121908177 0.00010
NM_031885.5(BBS2):c.612+18G>A rs200364314 0.00009
NM_031885.5(BBS2):c.1381G>A (p.Val461Met) rs377000980 0.00008
NM_031885.5(BBS2):c.1528-15G>T rs368282063 0.00008
NM_031885.5(BBS2):c.1786G>A (p.Val596Met) rs375828912 0.00008
NM_031885.5(BBS2):c.470C>T (p.Thr157Met) rs376483931 0.00008
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.1797+13G>A rs769739310 0.00006
NM_031885.5(BBS2):c.722A>C (p.Lys241Thr) rs199918247 0.00006
NM_031885.5(BBS2):c.1909A>T (p.Met637Leu) rs967941621 0.00005
NM_031885.5(BBS2):c.1046T>G (p.Leu349Trp) rs752280639 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.2056C>T (p.Arg686Trp) rs372135700 0.00004
NM_031885.5(BBS2):c.320A>G (p.Asn107Ser) rs1292834581 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.61A>G (p.Ile21Val) rs1319616745 0.00004
NM_031885.5(BBS2):c.962C>T (p.Thr321Met) rs758548498 0.00004
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.1615C>T (p.Arg539Trp) rs1175381219 0.00003
NM_031885.5(BBS2):c.1928G>A (p.Arg643His) rs532361142 0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_031885.5(BBS2):c.380C>G (p.Thr127Arg) rs1191790453 0.00003
NM_031885.5(BBS2):c.612+17C>T rs745726316 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.943C>T (p.Arg315Trp) rs121908178 0.00003
NM_031885.5(BBS2):c.112G>A (p.Gly38Ser) rs768699088 0.00002
NM_031885.5(BBS2):c.1220C>T (p.Ser407Phe) rs1428784861 0.00002
NM_031885.5(BBS2):c.1333A>G (p.Ile445Val) rs145757541 0.00002
NM_031885.5(BBS2):c.1470C>T (p.Asp490=) rs370024579 0.00002
NM_031885.5(BBS2):c.1713G>A (p.Met571Ile) rs755329143 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.2104A>G (p.Ile702Val) rs750150867 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_031885.5(BBS2):c.941-11C>T rs763441369 0.00002
NM_031885.5(BBS2):c.941-6G>A rs746397118 0.00002
NM_031885.5(BBS2):c.1112del (p.Asp371fs) rs1472488128 0.00001
NM_031885.5(BBS2):c.1139A>G (p.Asn380Ser) rs773720173 0.00001
NM_031885.5(BBS2):c.116A>G (p.Lys39Arg) rs779677560 0.00001
NM_031885.5(BBS2):c.117+17G>T rs201119943 0.00001
NM_031885.5(BBS2):c.117G>A (p.Lys39=) rs755877218 0.00001
NM_031885.5(BBS2):c.1190C>G (p.Thr397Ser) rs368138622 0.00001
NM_031885.5(BBS2):c.1240G>A (p.Ala414Thr) rs375585469 0.00001
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter) rs778090540 0.00001
NM_031885.5(BBS2):c.1439G>A (p.Arg480Gln) rs772380071 0.00001
NM_031885.5(BBS2):c.1530T>G (p.Val510=) rs545597883 0.00001
NM_031885.5(BBS2):c.1555C>G (p.Leu519Val) rs374028829 0.00001
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter) rs121908176 0.00001
NM_031885.5(BBS2):c.1804G>A (p.Glu602Lys) rs1199835895 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.1864C>T (p.Arg622Ter) rs201196733 0.00001
NM_031885.5(BBS2):c.1891G>A (p.Ala631Thr) rs771822557 0.00001
NM_031885.5(BBS2):c.1986dup (p.Asn663Ter) rs1597001788 0.00001
NM_031885.5(BBS2):c.2095C>T (p.Arg699Trp) rs1003841433 0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) rs567573386 0.00001
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys) rs750506474 0.00001
NM_031885.5(BBS2):c.334T>C (p.Phe112Leu) rs772864503 0.00001
NM_031885.5(BBS2):c.425G>A (p.Cys142Tyr) rs1348932407 0.00001
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu) rs767373822 0.00001
NM_031885.5(BBS2):c.563del (p.Ile188fs) rs1367927635 0.00001
NM_031885.5(BBS2):c.612+14C>G rs770986334 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.810T>C (p.Asp270=) rs1309546092 0.00001
NM_031885.5(BBS2):c.827C>G (p.Thr276Ser) rs776282237 0.00001
NM_031885.5(BBS2):c.940+1del rs746171104 0.00001
NM_031885.5(BBS2):c.941-20G>A rs760109919 0.00001
NM_031885.5(BBS2):c.963G>A (p.Thr321=) rs748014865 0.00001
NM_031885.5(BBS2):c.986T>C (p.Met329Thr) rs201146063 0.00001
NM_031885.5(BBS2):c.-163C>T rs750434595
NM_031885.5(BBS2):c.-9G>A
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter) rs193922710
NM_031885.5(BBS2):c.1059dup (p.Asn354Ter)
NM_031885.5(BBS2):c.1112A>T (p.Asp371Val) rs1366351316
NM_031885.5(BBS2):c.1123G>C (p.Gly375Arg) rs1018314879
NM_031885.5(BBS2):c.1142C>T (p.Thr381Ile)
NM_031885.5(BBS2):c.117+7G>A rs780862523
NM_031885.5(BBS2):c.118-2A>G
NM_031885.5(BBS2):c.1190C>T (p.Thr397Ile) rs368138622
NM_031885.5(BBS2):c.1208G>A (p.Arg403His)
NM_031885.5(BBS2):c.1208G>T (p.Arg403Leu) rs192007013
NM_031885.5(BBS2):c.1217C>A (p.Thr406Asn)
NM_031885.5(BBS2):c.1225+2dup
NM_031885.5(BBS2):c.1269del (p.Phe423fs)
NM_031885.5(BBS2):c.1294C>G (p.Pro432Ala)
NM_031885.5(BBS2):c.1304A>G (p.His435Arg)
NM_031885.5(BBS2):c.1307A>G (p.Asn436Ser) rs1964252649
NM_031885.5(BBS2):c.1325G>A (p.Cys442Tyr)
NM_031885.5(BBS2):c.1333A>C (p.Ile445Leu)
NM_031885.5(BBS2):c.1397+1G>A rs1225299095
NM_031885.5(BBS2):c.1398-9_1410dup
NM_031885.5(BBS2):c.1413A>G (p.Val471=) rs35294865
NM_031885.5(BBS2):c.142C>T (p.Arg48Trp) rs1030249829
NM_031885.5(BBS2):c.1454C>G (p.Ala485Gly)
NM_031885.5(BBS2):c.1454C>T (p.Ala485Val) rs376115616
NM_031885.5(BBS2):c.1493_1496del (p.Tyr498fs)
NM_031885.5(BBS2):c.1514A>G (p.Glu505Gly)
NM_031885.5(BBS2):c.1529T>C (p.Val510Ala)
NM_031885.5(BBS2):c.1543G>T (p.Gly515Cys) rs181107019
NM_031885.5(BBS2):c.1562C>T (p.Pro521Leu)
NM_031885.5(BBS2):c.1573C>G (p.His525Asp)
NM_031885.5(BBS2):c.1574dup (p.His525fs)
NM_031885.5(BBS2):c.1622G>T (p.Gly541Val)
NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys) rs556899786
NM_031885.5(BBS2):c.1634A>C (p.His545Pro) rs1461988620
NM_031885.5(BBS2):c.1649_1650del (p.Leu550fs) rs750146549
NM_031885.5(BBS2):c.1700T>C (p.Ile567Thr)
NM_031885.5(BBS2):c.1705C>T (p.Gln569Ter) rs1555521501
NM_031885.5(BBS2):c.1751C>T (p.Ala584Val)
NM_031885.5(BBS2):c.1845T>C (p.Ala615=) rs1964133464
NM_031885.5(BBS2):c.184dup (p.Leu62fs)
NM_031885.5(BBS2):c.1865G>A (p.Arg622Gln)
NM_031885.5(BBS2):c.1874T>C (p.Leu625Pro)
NM_031885.5(BBS2):c.1895G>A (p.Arg632His) rs138043021
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter) rs1963758780
NM_031885.5(BBS2):c.1943A>T (p.Tyr648Phe)
NM_031885.5(BBS2):c.1952A>G (p.Asn651Ser)
NM_031885.5(BBS2):c.1973A>G (p.Tyr658Cys) rs753656568
NM_031885.5(BBS2):c.1981C>A (p.Arg661Ser)
NM_031885.5(BBS2):c.198_199del (p.Leu68fs)
NM_031885.5(BBS2):c.2057G>A (p.Arg686Gln)
NM_031885.5(BBS2):c.2059+12_2059+13del rs746917866
NM_031885.5(BBS2):c.2114A>G (p.Asn705Ser)
NM_031885.5(BBS2):c.2115T>A (p.Asn705Lys)
NM_031885.5(BBS2):c.2150G>A (p.Gly717Glu)
NM_031885.5(BBS2):c.216C>T (p.Asn72=) rs375853147
NM_031885.5(BBS2):c.217C>T (p.Gln73Ter) rs199940492
NM_031885.5(BBS2):c.224T>C (p.Val75Ala)
NM_031885.5(BBS2):c.228_231inv (p.Ser76_Cys77delinsArgGln)
NM_031885.5(BBS2):c.243C>T (p.Gly81=)
NM_031885.5(BBS2):c.254del (p.Pro85fs)
NM_031885.5(BBS2):c.255del (p.Glu86fs) rs2144193104
NM_031885.5(BBS2):c.263del (p.Gly88fs) rs869025206
NM_031885.5(BBS2):c.269A>G (p.Asp90Gly) rs1228731722
NM_031885.5(BBS2):c.307T>C (p.Tyr103His)
NM_031885.5(BBS2):c.317A>G (p.Tyr106Cys)
NM_031885.5(BBS2):c.342A>G (p.Arg114=) rs2144192731
NM_031885.5(BBS2):c.344_345del (p.Glu115fs)
NM_031885.5(BBS2):c.345+1G>A
NM_031885.5(BBS2):c.353A>T (p.Asp118Val)
NM_031885.5(BBS2):c.365C>T (p.Ala122Val) rs17856449
NM_031885.5(BBS2):c.402del (p.Ala136fs) rs1368647604
NM_031885.5(BBS2):c.406dup (p.Ala136fs)
NM_031885.5(BBS2):c.407C>T (p.Ala136Val)
NM_031885.5(BBS2):c.416G>A (p.Gly139Asp)
NM_031885.5(BBS2):c.428C>T (p.Ala143Val) rs2144181662
NM_031885.5(BBS2):c.443A>G (p.Asn148Ser)
NM_031885.5(BBS2):c.471+5G>A
NM_031885.5(BBS2):c.472-2A>C
NM_031885.5(BBS2):c.472del rs587777826
NM_031885.5(BBS2):c.482A>G (p.Asp161Gly) rs755150651
NM_031885.5(BBS2):c.485A>G (p.Asn162Ser) rs749148042
NM_031885.5(BBS2):c.492T>G (p.Asn164Lys) rs779800067
NM_031885.5(BBS2):c.632C>T (p.Pro211Leu)
NM_031885.5(BBS2):c.661del (p.Leu221fs) rs770258677
NM_031885.5(BBS2):c.662T>C (p.Leu221Pro) rs1597020018
NM_031885.5(BBS2):c.710G>A (p.Arg237Lys)
NM_031885.5(BBS2):c.717+1G>T
NM_031885.5(BBS2):c.718-10T>A
NM_031885.5(BBS2):c.719C>G (p.Ser240Trp)
NM_031885.5(BBS2):c.719C>T (p.Ser240Leu)
NM_031885.5(BBS2):c.721A>G (p.Lys241Glu)
NM_031885.5(BBS2):c.743A>T (p.His248Leu)
NM_031885.5(BBS2):c.76G>A (p.Gly26Arg)
NM_031885.5(BBS2):c.774del (p.Asn258fs) rs777218224
NM_031885.5(BBS2):c.79A>C (p.Thr27Pro)
NM_031885.5(BBS2):c.816_817del (p.Arg272_Ser273insTer)
NM_031885.5(BBS2):c.856del (p.Ser286fs)
NM_031885.5(BBS2):c.862G>A (p.Ala288Thr)
NM_031885.5(BBS2):c.871G>A (p.Gly291Ser)
NM_031885.5(BBS2):c.878T>C (p.Val293Ala)
NM_031885.5(BBS2):c.892C>T (p.Arg298Trp)
NM_031885.5(BBS2):c.8T>C (p.Leu3Pro) rs1964870972
NM_031885.5(BBS2):c.940+1G>A
NM_031885.5(BBS2):c.941-8C>G rs373354290
NM_031885.5(BBS2):c.944G>A (p.Arg315Gln) rs544773389
NM_031885.5(BBS2):c.962C>A (p.Thr321Lys) rs758548498
NM_031885.5(BBS2):c.974G>A (p.Arg325Lys) rs1964301074
NM_031885.5(BBS2):c.977G>A (p.Gly326Asp)

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.