ClinVar Miner

List of variants in gene BBS9 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 450
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HGVS dbSNP gnomAD frequency
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299 0.00219
NM_198428.3(BBS9):c.2336T>A (p.Leu779Gln) rs142434516 0.00185
NM_198428.3(BBS9):c.2646C>A (p.Leu882=) rs61753527 0.00088
NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn) rs149362446 0.00081
NM_198428.3(BBS9):c.2214C>T (p.Ile738=) rs148536971 0.00071
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val) rs61764068 0.00066
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe) rs61753526 0.00053
NM_198428.3(BBS9):c.2322C>T (p.Ala774=) rs145435891 0.00037
NM_198428.3(BBS9):c.887-7C>T rs376333670 0.00036
NM_198428.3(BBS9):c.666T>A (p.Thr222=) rs145385875 0.00035
NM_198428.3(BBS9):c.1918A>G (p.Ile640Val) rs144112103 0.00034
NM_198428.3(BBS9):c.2460C>T (p.Ser820=) rs142563811 0.00031
NM_198428.3(BBS9):c.2115+20C>T rs779186804 0.00028
NM_198428.3(BBS9):c.621C>T (p.Tyr207=) rs140169161 0.00026
NM_198428.3(BBS9):c.2211G>A (p.Leu737=) rs144672900 0.00024
NM_198428.3(BBS9):c.113-13A>T rs766360617 0.00022
NM_198428.3(BBS9):c.328+18C>T rs201767914 0.00021
NM_198428.3(BBS9):c.771A>G (p.Ala257=) rs145007686 0.00021
NM_198428.3(BBS9):c.886+14T>G rs368019366 0.00019
NM_198428.3(BBS9):c.1790-16A>G rs545383863 0.00011
NM_198428.3(BBS9):c.2022G>T (p.Arg674=) rs561957887 0.00011
NM_198428.3(BBS9):c.195C>T (p.Ala65=) rs373063776 0.00010
NM_198428.3(BBS9):c.1963-13T>C rs775660869 0.00010
NM_198428.3(BBS9):c.1538-9G>T rs770317221 0.00008
NM_198428.3(BBS9):c.2313G>A (p.Thr771=) rs374269883 0.00008
NM_198428.3(BBS9):c.2241C>T (p.Asp747=) rs144089673 0.00007
NM_198428.3(BBS9):c.1560G>A (p.Pro520=) rs779586578 0.00006
NM_198428.3(BBS9):c.174A>G (p.Lys58=) rs148812031 0.00006
NM_198428.3(BBS9):c.2115+19A>G rs184420556 0.00006
NM_198428.3(BBS9):c.2521+16A>G rs781066901 0.00006
NM_198428.3(BBS9):c.113-14T>A rs543714605 0.00004
NM_198428.3(BBS9):c.1198+13C>T rs753894974 0.00004
NM_198428.3(BBS9):c.1611A>C (p.Pro537=) rs140411078 0.00004
NM_198428.3(BBS9):c.600A>G (p.Gln200=) rs764060515 0.00004
NM_198428.3(BBS9):c.715C>T (p.Leu239=) rs751112173 0.00004
NM_198428.3(BBS9):c.1377C>T (p.Val459=) rs763552337 0.00003
NM_198428.3(BBS9):c.1553-11T>C rs756802547 0.00003
NM_198428.3(BBS9):c.2487C>T (p.Thr829=) rs746373450 0.00003
NM_198428.3(BBS9):c.2538C>T (p.Ile846=) rs376692708 0.00003
NM_198428.3(BBS9):c.528T>A (p.Pro176=) rs757308943 0.00003
NM_198428.3(BBS9):c.102A>T (p.Gly34=) rs753601080 0.00002
NM_198428.3(BBS9):c.1553-17T>A rs1297146159 0.00002
NM_198428.3(BBS9):c.2445C>G (p.Leu815=) rs758338410 0.00002
NM_198428.3(BBS9):c.249A>T (p.Val83=) rs377626008 0.00002
NM_198428.3(BBS9):c.2633-15T>C rs757904510 0.00002
NM_198428.3(BBS9):c.1016+13A>G rs1800275981 0.00001
NM_198428.3(BBS9):c.1016+9T>C rs1368671043 0.00001
NM_198428.3(BBS9):c.1056T>A (p.Gly352=) rs1815379840 0.00001
NM_198428.3(BBS9):c.112+13C>A rs1562672800 0.00001
NM_198428.3(BBS9):c.1287T>C (p.Asp429=) rs765234386 0.00001
NM_198428.3(BBS9):c.1464T>C (p.Ser488=) rs200850911 0.00001
NM_198428.3(BBS9):c.1537+14C>T rs754694089 0.00001
NM_198428.3(BBS9):c.1593A>G (p.Leu531=) rs1819915912 0.00001
NM_198428.3(BBS9):c.1686C>T (p.Leu562=) rs1278366304 0.00001
NM_198428.3(BBS9):c.1790-15A>T rs758380962 0.00001
NM_198428.3(BBS9):c.1790-7C>T rs746901030 0.00001
NM_198428.3(BBS9):c.1815A>G (p.Gln605=) rs1292611620 0.00001
NM_198428.3(BBS9):c.1963-11A>G rs749640684 0.00001
NM_198428.3(BBS9):c.2070C>G (p.Ala690=) rs200515072 0.00001
NM_198428.3(BBS9):c.2116-4G>T rs769866686 0.00001
NM_198428.3(BBS9):c.2136A>G (p.Ala712=) rs1200861380 0.00001
NM_198428.3(BBS9):c.2142G>A (p.Glu714=) rs1846024220 0.00001
NM_198428.3(BBS9):c.2208G>A (p.Leu736=) rs758765828 0.00001
NM_198428.3(BBS9):c.2274G>A (p.Pro758=) rs746134918 0.00001
NM_198428.3(BBS9):c.231A>G (p.Pro77=) rs763936170 0.00001
NM_198428.3(BBS9):c.2433T>C (p.His811=) rs1850999612 0.00001
NM_198428.3(BBS9):c.2448C>T (p.Cys816=) rs375606348 0.00001
NM_198428.3(BBS9):c.2472T>C (p.Arg824=) rs753957320 0.00001
NM_198428.3(BBS9):c.263+13A>T rs374383847 0.00001
NM_198428.3(BBS9):c.2633-10T>C rs879202314 0.00001
NM_198428.3(BBS9):c.2658G>A (p.Ser886=) rs748336687 0.00001
NM_198428.3(BBS9):c.312T>C (p.Cys104=) rs1793992071 0.00001
NM_198428.3(BBS9):c.318C>T (p.Tyr106=) rs200476774 0.00001
NM_198428.3(BBS9):c.328+16A>G rs749205665 0.00001
NM_198428.3(BBS9):c.507T>C (p.Tyr169=) rs376901170 0.00001
NM_198428.3(BBS9):c.519A>G (p.Arg173=) rs911834235 0.00001
NM_198428.3(BBS9):c.930C>T (p.Asn310=) rs140396972 0.00001
NM_198428.3(BBS9):c.954G>A (p.Val318=) rs774067100 0.00001
NM_198428.3(BBS9):c.1000A>C (p.Arg334=)
NM_198428.3(BBS9):c.1016+19C>T
NM_198428.3(BBS9):c.1016+20A>G rs2128347768
NM_198428.3(BBS9):c.1016+7del
NM_198428.3(BBS9):c.1016+8A>G
NM_198428.3(BBS9):c.1016+8A>T
NM_198428.3(BBS9):c.1017-14C>T
NM_198428.3(BBS9):c.1017-4G>T
NM_198428.3(BBS9):c.1020T>C (p.Asp340=)
NM_198428.3(BBS9):c.102A>G (p.Gly34=)
NM_198428.3(BBS9):c.1035A>C (p.Ile345=)
NM_198428.3(BBS9):c.1042C>T (p.Leu348=)
NM_198428.3(BBS9):c.1053T>C (p.Asp351=)
NM_198428.3(BBS9):c.1059C>T (p.His353=) rs2128625827
NM_198428.3(BBS9):c.105T>C (p.Asn35=) rs577536627
NM_198428.3(BBS9):c.1065G>A (p.Gln355=) rs756380526
NM_198428.3(BBS9):c.1104T>G (p.Ala368=)
NM_198428.3(BBS9):c.1107A>G (p.Pro369=) rs1227576006
NM_198428.3(BBS9):c.1113T>A (p.Val371=) rs1584387772
NM_198428.3(BBS9):c.1116A>G (p.Gln372=)
NM_198428.3(BBS9):c.112+11T>G rs1792345660
NM_198428.3(BBS9):c.112+18A>G
NM_198428.3(BBS9):c.112+19T>A
NM_198428.3(BBS9):c.112+21_112+22del
NM_198428.3(BBS9):c.1125A>G (p.Glu375=)
NM_198428.3(BBS9):c.1128A>G (p.Leu376=)
NM_198428.3(BBS9):c.113-17_113-16insG
NM_198428.3(BBS9):c.113-6C>T rs1368410932
NM_198428.3(BBS9):c.113-8C>T rs1193975738
NM_198428.3(BBS9):c.113-9T>C rs1793527699
NM_198428.3(BBS9):c.1134T>C (p.Tyr378=)
NM_198428.3(BBS9):c.1152A>G (p.Glu384=)
NM_198428.3(BBS9):c.1182T>C (p.Asp394=)
NM_198428.3(BBS9):c.1194A>G (p.Ser398=)
NM_198428.3(BBS9):c.1198+11T>C
NM_198428.3(BBS9):c.1198+12G>T
NM_198428.3(BBS9):c.1198+14A>T
NM_198428.3(BBS9):c.1198+15G>T
NM_198428.3(BBS9):c.1198+16C>G
NM_198428.3(BBS9):c.1198+9T>C
NM_198428.3(BBS9):c.1199-12T>C
NM_198428.3(BBS9):c.1200T>C (p.Gly400=)
NM_198428.3(BBS9):c.1221A>G (p.Arg407=)
NM_198428.3(BBS9):c.1245C>G (p.Val415=)
NM_198428.3(BBS9):c.1269A>G (p.Ser423=)
NM_198428.3(BBS9):c.1275+19T>A
NM_198428.3(BBS9):c.1276-10G>T
NM_198428.3(BBS9):c.1276-15del rs2128646892
NM_198428.3(BBS9):c.1281G>A (p.Ala427=)
NM_198428.3(BBS9):c.1302T>G (p.Thr434=) rs1173516747
NM_198428.3(BBS9):c.1305C>T (p.Asp435=) rs2128647066
NM_198428.3(BBS9):c.1308T>C (p.Leu436=) rs886043248
NM_198428.3(BBS9):c.1311C>G (p.Val437=)
NM_198428.3(BBS9):c.1323G>A (p.Thr441=)
NM_198428.3(BBS9):c.1329+11A>G
NM_198428.3(BBS9):c.1329+14T>A
NM_198428.3(BBS9):c.1329+9C>A rs747489914
NM_198428.3(BBS9):c.1330-10G>T
NM_198428.3(BBS9):c.1330-17A>G
NM_198428.3(BBS9):c.1330-18C>A rs547699537
NM_198428.3(BBS9):c.1330-18_1330-16del
NM_198428.3(BBS9):c.1330-19A>G
NM_198428.3(BBS9):c.1330-6C>T
NM_198428.3(BBS9):c.1335A>C (p.Thr445=)
NM_198428.3(BBS9):c.1335A>G (p.Thr445=)
NM_198428.3(BBS9):c.1344C>T (p.Asn448=)
NM_198428.3(BBS9):c.1354T>C (p.Leu452=)
NM_198428.3(BBS9):c.1359A>G (p.Gln453=)
NM_198428.3(BBS9):c.1380C>T (p.Tyr460=)
NM_198428.3(BBS9):c.1386A>G (p.Gln462=)
NM_198428.3(BBS9):c.1389A>G (p.Pro463=)
NM_198428.3(BBS9):c.1398A>G (p.Glu466=)
NM_198428.3(BBS9):c.1399T>C (p.Leu467=)
NM_198428.3(BBS9):c.1410T>C (p.Asp470=)
NM_198428.3(BBS9):c.1413G>A (p.Gln471=)
NM_198428.3(BBS9):c.1425A>G (p.Glu475=)
NM_198428.3(BBS9):c.1432+12G>A
NM_198428.3(BBS9):c.1432+12G>C
NM_198428.3(BBS9):c.1433-12C>A
NM_198428.3(BBS9):c.1433-19A>T
NM_198428.3(BBS9):c.1433-9T>C
NM_198428.3(BBS9):c.1441T>C (p.Leu481=)
NM_198428.3(BBS9):c.1443G>A (p.Leu481=)
NM_198428.3(BBS9):c.144C>T (p.Tyr48=)
NM_198428.3(BBS9):c.1491A>G (p.Pro497=)
NM_198428.3(BBS9):c.1498T>C (p.Leu500=)
NM_198428.3(BBS9):c.1506A>C (p.Gly502=)
NM_198428.3(BBS9):c.1515T>C (p.Val505=)
NM_198428.3(BBS9):c.1537+12G>C
NM_198428.3(BBS9):c.1537+13dup
NM_198428.3(BBS9):c.1537+20C>A
NM_198428.3(BBS9):c.1537+20C>T
NM_198428.3(BBS9):c.1537+9A>G rs2128667783
NM_198428.3(BBS9):c.1538-13C>A
NM_198428.3(BBS9):c.1538-13C>T
NM_198428.3(BBS9):c.1538-17T>C
NM_198428.3(BBS9):c.1538-4A>G
NM_198428.3(BBS9):c.1552+17T>C
NM_198428.3(BBS9):c.1553-12C>G
NM_198428.3(BBS9):c.1553-14C>T
NM_198428.3(BBS9):c.1553-20A>C
NM_198428.3(BBS9):c.1553-20A>G
NM_198428.3(BBS9):c.1553-8T>C
NM_198428.3(BBS9):c.1575T>C (p.Cys525=)
NM_198428.3(BBS9):c.1591C>T (p.Leu531=)
NM_198428.3(BBS9):c.1599A>G (p.Leu533=)
NM_198428.3(BBS9):c.1608A>G (p.Leu536=)
NM_198428.3(BBS9):c.1617G>A (p.Gln539=)
NM_198428.3(BBS9):c.1623A>G (p.Ser541=)
NM_198428.3(BBS9):c.1644T>A (p.Ile548=)
NM_198428.3(BBS9):c.165T>C (p.His55=)
NM_198428.3(BBS9):c.1671C>T (p.Val557=)
NM_198428.3(BBS9):c.1674T>C (p.Ser558=)
NM_198428.3(BBS9):c.1694-10T>C
NM_198428.3(BBS9):c.1694-4G>A
NM_198428.3(BBS9):c.1694-4G>C
NM_198428.3(BBS9):c.1694-6T>G rs28622379
NM_198428.3(BBS9):c.1701C>G (p.Ala567=)
NM_198428.3(BBS9):c.1713T>C (p.Asp571=) rs1584516022
NM_198428.3(BBS9):c.1716T>C (p.Asp572=)
NM_198428.3(BBS9):c.1725G>C (p.Val575=)
NM_198428.3(BBS9):c.1725G>T (p.Val575=)
NM_198428.3(BBS9):c.1743C>T (p.His581=)
NM_198428.3(BBS9):c.1749A>G (p.Leu583=) rs1822081249
NM_198428.3(BBS9):c.1767T>C (p.Thr589=) rs534722075
NM_198428.3(BBS9):c.1773T>C (p.Leu591=)
NM_198428.3(BBS9):c.1776T>G (p.Ala592=) rs2128714393
NM_198428.3(BBS9):c.1779C>T (p.Ser593=)
NM_198428.3(BBS9):c.177A>G (p.Thr59=)
NM_198428.3(BBS9):c.1789+12C>A
NM_198428.3(BBS9):c.1789+15G>C
NM_198428.3(BBS9):c.1790-13T>A
NM_198428.3(BBS9):c.1790-16A>C
NM_198428.3(BBS9):c.1790-17T>C rs765367261
NM_198428.3(BBS9):c.1790-18T>A rs2128748428
NM_198428.3(BBS9):c.1790-19C>T
NM_198428.3(BBS9):c.1790-20C>G
NM_198428.3(BBS9):c.1790-7C>A
NM_198428.3(BBS9):c.1794A>T (p.Arg598=)
NM_198428.3(BBS9):c.1809T>C (p.Ser603=)
NM_198428.3(BBS9):c.1824T>C (p.Asp608=)
NM_198428.3(BBS9):c.1833C>T (p.Leu611=)
NM_198428.3(BBS9):c.1845G>A (p.Glu615=)
NM_198428.3(BBS9):c.1860T>A (p.Leu620=)
NM_198428.3(BBS9):c.1863A>G (p.Gln621=)
NM_198428.3(BBS9):c.1875A>G (p.Glu625=) rs1584588891
NM_198428.3(BBS9):c.1884A>G (p.Gly628=)
NM_198428.3(BBS9):c.1893T>C (p.Asp631=)
NM_198428.3(BBS9):c.1899A>G (p.Ala633=)
NM_198428.3(BBS9):c.18C>T (p.Ala6=)
NM_198428.3(BBS9):c.1902T>C (p.Cys634=)
NM_198428.3(BBS9):c.1923C>A (p.Pro641=) rs886062287
NM_198428.3(BBS9):c.195C>A (p.Ala65=) rs373063776
NM_198428.3(BBS9):c.1962+11T>C
NM_198428.3(BBS9):c.1962+17C>T
NM_198428.3(BBS9):c.1962+18C>A
NM_198428.3(BBS9):c.1962+18C>G
NM_198428.3(BBS9):c.1962+9G>A
NM_198428.3(BBS9):c.1963-10T>C
NM_198428.3(BBS9):c.1963-15A>G
NM_198428.3(BBS9):c.1963-18A>C
NM_198428.3(BBS9):c.1963-4G>A
NM_198428.3(BBS9):c.1963-8C>A
NM_198428.3(BBS9):c.1968G>C (p.Arg656=)
NM_198428.3(BBS9):c.198A>G (p.Glu66=)
NM_198428.3(BBS9):c.2016A>G (p.Gln672=) rs2128756519
NM_198428.3(BBS9):c.201T>C (p.Asp67=)
NM_198428.3(BBS9):c.2031A>G (p.Gln677=)
NM_198428.3(BBS9):c.2034C>T (p.Arg678=)
NM_198428.3(BBS9):c.2037G>A (p.Arg679=) rs774728969
NM_198428.3(BBS9):c.207T>C (p.Leu69=)
NM_198428.3(BBS9):c.2082C>T (p.His694=)
NM_198428.3(BBS9):c.2094G>A (p.Leu698=)
NM_198428.3(BBS9):c.2100T>C (p.Asp700=) rs1826369751
NM_198428.3(BBS9):c.2106C>G (p.Thr702=)
NM_198428.3(BBS9):c.2115+12A>G
NM_198428.3(BBS9):c.2115+15A>C
NM_198428.3(BBS9):c.2115+17dup rs1826376756
NM_198428.3(BBS9):c.2115+20_2115+21del
NM_198428.3(BBS9):c.2115+9A>G
NM_198428.3(BBS9):c.2116-12dup
NM_198428.3(BBS9):c.2116-13G>C
NM_198428.3(BBS9):c.2116-15T>C rs1846018417
NM_198428.3(BBS9):c.2116-17G>A
NM_198428.3(BBS9):c.2116-20G>T
NM_198428.3(BBS9):c.213A>G (p.Glu71=)
NM_198428.3(BBS9):c.2169A>G (p.Ser723=)
NM_198428.3(BBS9):c.2179C>T (p.Leu727=) rs373177157
NM_198428.3(BBS9):c.2190C>T (p.Ala730=)
NM_198428.3(BBS9):c.2193C>T (p.Thr731=)
NM_198428.3(BBS9):c.2217G>A (p.Ala739=) rs749322793
NM_198428.3(BBS9):c.2217G>T (p.Ala739=) rs749322793
NM_198428.3(BBS9):c.222A>G (p.Leu74=)
NM_198428.3(BBS9):c.2244G>A (p.Gln748=)
NM_198428.3(BBS9):c.2247T>C (p.Val749=)
NM_198428.3(BBS9):c.2250T>C (p.Ala750=)
NM_198428.3(BBS9):c.2262G>A (p.Ala754=) rs751886707
NM_198428.3(BBS9):c.2271G>C (p.Leu757=) rs2129016290
NM_198428.3(BBS9):c.2277A>G (p.Leu759=) rs1052268884
NM_198428.3(BBS9):c.228T>C (p.Asp76=)
NM_198428.3(BBS9):c.2298+16C>T
NM_198428.3(BBS9):c.2298+8C>A rs2129016313
NM_198428.3(BBS9):c.2299-12T>C
NM_198428.3(BBS9):c.2299-14G>C
NM_198428.3(BBS9):c.2299-19A>G
NM_198428.3(BBS9):c.2299-4C>G
NM_198428.3(BBS9):c.2310A>G (p.Glu770=)
NM_198428.3(BBS9):c.2331C>T (p.Ser777=)
NM_198428.3(BBS9):c.2337G>A (p.Leu779=) rs2129059212
NM_198428.3(BBS9):c.2346T>C (p.Thr782=)
NM_198428.3(BBS9):c.2355G>A (p.Ser785=) rs1403362656
NM_198428.3(BBS9):c.2355G>C (p.Ser785=) rs1403362656
NM_198428.3(BBS9):c.2355G>T (p.Ser785=)
NM_198428.3(BBS9):c.2376T>G (p.Ala792=)
NM_198428.3(BBS9):c.2388C>T (p.Asn796=)
NM_198428.3(BBS9):c.2391C>T (p.Ser797=)
NM_198428.3(BBS9):c.2397G>A (p.Leu799=)
NM_198428.3(BBS9):c.2412C>T (p.Asp804=)
NM_198428.3(BBS9):c.2421A>G (p.Gln807=)
NM_198428.3(BBS9):c.2439C>A (p.Thr813=)
NM_198428.3(BBS9):c.2445C>T (p.Leu815=)
NM_198428.3(BBS9):c.2463A>G (p.Lys821=)
NM_198428.3(BBS9):c.2481A>G (p.Leu827=)
NM_198428.3(BBS9):c.2487C>A (p.Thr829=)
NM_198428.3(BBS9):c.2499C>T (p.Ala833=) rs1163398668
NM_198428.3(BBS9):c.249A>C (p.Val83=)
NM_198428.3(BBS9):c.2505G>A (p.Gln835=)
NM_198428.3(BBS9):c.2521+11dup
NM_198428.3(BBS9):c.2521+16A>C
NM_198428.3(BBS9):c.2521+19C>G
NM_198428.3(BBS9):c.2521+20T>C
NM_198428.3(BBS9):c.2522-13A>C
NM_198428.3(BBS9):c.2522-15G>C
NM_198428.3(BBS9):c.2522-7C>A
NM_198428.3(BBS9):c.2522-7del
NM_198428.3(BBS9):c.2550C>T (p.Asp850=)
NM_198428.3(BBS9):c.2562A>G (p.Arg854=)
NM_198428.3(BBS9):c.2565A>G (p.Ser855=)
NM_198428.3(BBS9):c.261T>G (p.Val87=) rs2128108429
NM_198428.3(BBS9):c.2625C>T (p.Pro875=)
NM_198428.3(BBS9):c.2626A>C (p.Arg876=)
NM_198428.3(BBS9):c.2628G>A (p.Arg876=)
NM_198428.3(BBS9):c.263+13A>G
NM_198428.3(BBS9):c.263+16A>G
NM_198428.3(BBS9):c.2632+10del
NM_198428.3(BBS9):c.2632+13A>T
NM_198428.3(BBS9):c.2632+8A>C
NM_198428.3(BBS9):c.2633-11T>C
NM_198428.3(BBS9):c.2633-16C>T
NM_198428.3(BBS9):c.2633-16CT[2]
NM_198428.3(BBS9):c.2633-5T>C
NM_198428.3(BBS9):c.2633-6T>C rs2129208551
NM_198428.3(BBS9):c.264-10T>C
NM_198428.3(BBS9):c.264-11C>G
NM_198428.3(BBS9):c.264-11_264-10del
NM_198428.3(BBS9):c.264-12T>G
NM_198428.3(BBS9):c.264-14T>C
NM_198428.3(BBS9):c.264-14T>G rs759013829
NM_198428.3(BBS9):c.264-16T>G
NM_198428.3(BBS9):c.264-4T>C
NM_198428.3(BBS9):c.2643C>T (p.Pro881=) rs2129208595
NM_198428.3(BBS9):c.2646C>T (p.Leu882=)
NM_198428.3(BBS9):c.279A>G (p.Leu93=)
NM_198428.3(BBS9):c.315C>G (p.Val105=) rs1051716854
NM_198428.3(BBS9):c.321T>G (p.Ser107=) rs2128114803
NM_198428.3(BBS9):c.324C>A (p.Val108=)
NM_198428.3(BBS9):c.328+11T>C rs1793997816
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGG rs775674614
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTGAG
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGC rs775674614
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC rs775674614
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
NM_198428.3(BBS9):c.328+16A>C rs749205665
NM_198428.3(BBS9):c.328+16_328+27del rs770155616
NM_198428.3(BBS9):c.328+20A>G
NM_198428.3(BBS9):c.328+7A>T
NM_198428.3(BBS9):c.329-13T>C
NM_198428.3(BBS9):c.329-19C>T
NM_198428.3(BBS9):c.329-19_329-17del
NM_198428.3(BBS9):c.329-5del rs1797490601
NM_198428.3(BBS9):c.329-6C>T rs1445078208
NM_198428.3(BBS9):c.329-7T>C rs976567513
NM_198428.3(BBS9):c.329-8T>C
NM_198428.3(BBS9):c.342T>C (p.Asn114=)
NM_198428.3(BBS9):c.36T>C (p.Thr12=)
NM_198428.3(BBS9):c.381T>C (p.Tyr127=)
NM_198428.3(BBS9):c.396G>A (p.Gln132=)
NM_198428.3(BBS9):c.397A>C (p.Arg133=)
NM_198428.3(BBS9):c.402A>G (p.Thr134=) rs2128163033
NM_198428.3(BBS9):c.417C>T (p.Thr139=)
NM_198428.3(BBS9):c.438A>T (p.Val146=)
NM_198428.3(BBS9):c.442+16T>A
NM_198428.3(BBS9):c.442+19T>C
NM_198428.3(BBS9):c.442+7T>G rs1470563544
NM_198428.3(BBS9):c.443-17C>A
NM_198428.3(BBS9):c.443-20T>C
NM_198428.3(BBS9):c.443-6_443-4del
NM_198428.3(BBS9):c.443-8T>C
NM_198428.3(BBS9):c.456T>C (p.Ile152=)
NM_198428.3(BBS9):c.459C>T (p.Cys153=)
NM_198428.3(BBS9):c.477G>C (p.Gly159=)
NM_198428.3(BBS9):c.498G>A (p.Gln166=)
NM_198428.3(BBS9):c.525C>T (p.Leu175=)
NM_198428.3(BBS9):c.528T>C (p.Pro176=)
NM_198428.3(BBS9):c.531C>T (p.Gly177=) rs113518488
NM_198428.3(BBS9):c.540G>A (p.Leu180=)
NM_198428.3(BBS9):c.540G>T (p.Leu180=)
NM_198428.3(BBS9):c.555C>G (p.Ala185=) rs35440033
NM_198428.3(BBS9):c.564C>T (p.Ser188=)
NM_198428.3(BBS9):c.570A>G (p.Thr190=)
NM_198428.3(BBS9):c.579C>T (p.Phe193=)
NM_198428.3(BBS9):c.594C>T (p.Ser198=)
NM_198428.3(BBS9):c.606G>A (p.Val202=)
NM_198428.3(BBS9):c.617+11A>T
NM_198428.3(BBS9):c.617+13G>A
NM_198428.3(BBS9):c.617+17A>C
NM_198428.3(BBS9):c.617+7T>C
NM_198428.3(BBS9):c.618-14T>C
NM_198428.3(BBS9):c.618-17A>T
NM_198428.3(BBS9):c.618-18T>A
NM_198428.3(BBS9):c.618-4A>G
NM_198428.3(BBS9):c.624G>A (p.Gln208=)
NM_198428.3(BBS9):c.660G>A (p.Gln220=)
NM_198428.3(BBS9):c.663G>A (p.Glu221=)
NM_198428.3(BBS9):c.675A>G (p.Gln225=)
NM_198428.3(BBS9):c.681T>C (p.Leu227=)
NM_198428.3(BBS9):c.687T>G (p.Ser229=)
NM_198428.3(BBS9):c.699A>C (p.Leu233=) rs1326295377
NM_198428.3(BBS9):c.702+10T>C
NM_198428.3(BBS9):c.702+13T>C
NM_198428.3(BBS9):c.702+16A>G
NM_198428.3(BBS9):c.702+18T>C
NM_198428.3(BBS9):c.702+20T>C rs756668480
NM_198428.3(BBS9):c.703-14G>A
NM_198428.3(BBS9):c.703-17T>C
NM_198428.3(BBS9):c.703-18T>C
NM_198428.3(BBS9):c.703-19A>G
NM_198428.3(BBS9):c.705G>A (p.Val235=)
NM_198428.3(BBS9):c.753C>T (p.Val251=) rs2128344695
NM_198428.3(BBS9):c.768G>A (p.Ser256=)
NM_198428.3(BBS9):c.786T>A (p.Val262=)
NM_198428.3(BBS9):c.825A>G (p.Gly275=)
NM_198428.3(BBS9):c.828A>G (p.Gln276=)
NM_198428.3(BBS9):c.834A>G (p.Arg278=)
NM_198428.3(BBS9):c.852T>C (p.Asp284=) rs2128345148
NM_198428.3(BBS9):c.858C>T (p.Ser286=)
NM_198428.3(BBS9):c.861A>C (p.Pro287=)
NM_198428.3(BBS9):c.861A>G (p.Pro287=)
NM_198428.3(BBS9):c.886+11A>G
NM_198428.3(BBS9):c.886+11dup rs2128345419
NM_198428.3(BBS9):c.886+12G>A
NM_198428.3(BBS9):c.886+12G>T
NM_198428.3(BBS9):c.886+17del rs774382014
NM_198428.3(BBS9):c.886+19T>C
NM_198428.3(BBS9):c.886+7A>G
NM_198428.3(BBS9):c.886+7_886+8insAAA rs768793235
NM_198428.3(BBS9):c.886+8G>A rs745781708
NM_198428.3(BBS9):c.886+9A>G
NM_198428.3(BBS9):c.887-15A>C
NM_198428.3(BBS9):c.887-16T>C
NM_198428.3(BBS9):c.887-17G>A
NM_198428.3(BBS9):c.936G>A (p.Leu312=)
NM_198428.3(BBS9):c.936G>T (p.Leu312=)
NM_198428.3(BBS9):c.957A>G (p.Thr319=)
NM_198428.3(BBS9):c.969C>T (p.Ala323=)
NM_198428.3(BBS9):c.990T>C (p.Pro330=)
NM_198428.3(BBS9):c.9A>G (p.Leu3=)

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