ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 by Fulgent Genetics, Fulgent Genetics

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ClinVar version:
Total variants: 206
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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.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)

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