ClinVar Miner

List of variants in gene BBS9 reported as uncertain significance for Bardet-Biedl syndrome 9

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Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072 0.00392
NM_198428.3(BBS9):c.*336A>G rs578208457 0.00135
NM_198428.3(BBS9):c.2646C>A (p.Leu882=) rs61753527 0.00088
NM_198428.3(BBS9):c.-397G>A rs561901329 0.00070
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val) rs61764068 0.00066
NM_198428.3(BBS9):c.*589G>A rs548920550 0.00056
NM_198428.3(BBS9):c.*29A>G rs373446119 0.00041
NM_198428.3(BBS9):c.2460C>T (p.Ser820=) rs142563811 0.00031
NM_198428.3(BBS9):c.2211G>A (p.Leu737=) rs144672900 0.00024
NM_198428.3(BBS9):c.2593A>G (p.Thr865Ala) rs143963391 0.00022
NM_198428.3(BBS9):c.736C>T (p.Leu246Phe) rs140821420 0.00016
NM_198428.3(BBS9):c.1760G>A (p.Arg587Gln) rs149042169 0.00014
NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly) rs149668719 0.00013
NM_198428.3(BBS9):c.1487C>T (p.Thr496Ile) rs139303948 0.00011
NM_198428.3(BBS9):c.862A>G (p.Ser288Gly) rs146770174 0.00011
NM_198428.3(BBS9):c.928A>G (p.Asn310Asp) rs369647403 0.00011
NM_198428.3(BBS9):c.195C>T (p.Ala65=) rs373063776 0.00010
NM_198428.3(BBS9):c.436G>A (p.Val146Ile) rs372412756 0.00010
NM_198428.3(BBS9):c.2509A>G (p.Met837Val) rs771310981 0.00009
NM_198428.3(BBS9):c.1538-9G>T rs770317221 0.00008
NM_198428.3(BBS9):c.2033G>A (p.Arg678His) rs200654248 0.00007
NM_198428.3(BBS9):c.833G>A (p.Arg278Gln) rs754343745 0.00006
NM_198428.3(BBS9):c.2449G>A (p.Asp817Asn) rs781476538 0.00005
NM_198428.3(BBS9):c.*337C>T rs1188169231 0.00004
NM_198428.3(BBS9):c.*406A>G rs748029581 0.00004
NM_198428.3(BBS9):c.-206T>G rs953412791 0.00004
NM_198428.3(BBS9):c.1199G>A (p.Gly400Asp) rs1312526837 0.00004
NM_198428.3(BBS9):c.1293G>C (p.Glu431Asp) rs767170924 0.00004
NM_198428.3(BBS9):c.1322C>T (p.Thr441Met) rs140675013 0.00004
NM_198428.3(BBS9):c.1468T>C (p.Tyr490His) rs760084192 0.00004
NM_198428.3(BBS9):c.1611A>C (p.Pro537=) rs140411078 0.00004
NM_198428.3(BBS9):c.2434A>T (p.Ile812Phe) rs779871496 0.00004
NM_198428.3(BBS9):c.2632G>T (p.Glu878Ter) rs150826095 0.00004
NM_198428.3(BBS9):c.559A>G (p.Ser187Gly) rs771447042 0.00004
NM_198428.3(BBS9):c.58T>G (p.Phe20Val) rs779638896 0.00004
NM_198428.3(BBS9):c.702+6G>A rs777329822 0.00004
NM_198428.3(BBS9):c.715C>T (p.Leu239=) rs751112173 0.00004
NM_198428.3(BBS9):c.974A>G (p.Gln325Arg) rs377207430 0.00004
NM_198428.3(BBS9):c.1236C>T (p.Asn412=) rs139235142 0.00003
NM_198428.3(BBS9):c.1486A>G (p.Thr496Ala) rs369146555 0.00003
NM_198428.3(BBS9):c.1553-11T>C rs756802547 0.00003
NM_198428.3(BBS9):c.1801A>G (p.Ile601Val) rs377588119 0.00003
NM_198428.3(BBS9):c.2174C>T (p.Thr725Ile) rs749948775 0.00003
NM_198428.3(BBS9):c.2273C>T (p.Pro758Leu) rs757754301 0.00003
NM_198428.3(BBS9):c.2488G>A (p.Asp830Asn) rs368704638 0.00003
NM_198428.3(BBS9):c.2538C>T (p.Ile846=) rs376692708 0.00003
NM_198428.3(BBS9):c.1431G>A (p.Met477Ile) rs1443035026 0.00002
NM_198428.3(BBS9):c.1741C>T (p.His581Tyr) rs537110423 0.00002
NM_198428.3(BBS9):c.1798C>T (p.Arg600Cys) rs775703296 0.00002
NM_198428.3(BBS9):c.1897G>A (p.Ala633Thr) rs778505224 0.00002
NM_198428.3(BBS9):c.2294_2296del (p.Glu765_Leu766delinsVal) rs752782918 0.00002
NM_198428.3(BBS9):c.2653G>T (p.Val885Phe) rs950624105 0.00002
NM_198428.3(BBS9):c.335T>C (p.Leu112Ser) rs904098347 0.00002
NM_198428.3(BBS9):c.818A>G (p.Asp273Gly) rs1264926096 0.00002
NM_198428.3(BBS9):c.*12T>C rs770978235 0.00001
NM_198428.3(BBS9):c.*585C>T rs1273092896 0.00001
NM_198428.3(BBS9):c.*801G>A rs1216449046 0.00001
NM_198428.3(BBS9):c.-163G>C rs886062281 0.00001
NM_198428.3(BBS9):c.-271G>A rs886062280 0.00001
NM_198428.3(BBS9):c.1033A>G (p.Ile345Val) rs1426530664 0.00001
NM_198428.3(BBS9):c.1111G>A (p.Val371Ile) rs1366355966 0.00001
NM_198428.3(BBS9):c.1147G>A (p.Val383Ile) rs1030973947 0.00001
NM_198428.3(BBS9):c.1210A>G (p.Met404Val) rs779666112 0.00001
NM_198428.3(BBS9):c.122T>G (p.Ile41Ser) rs1381039813 0.00001
NM_198428.3(BBS9):c.1329+5T>C rs200033003 0.00001
NM_198428.3(BBS9):c.1352T>C (p.Ile451Thr) rs773192233 0.00001
NM_198428.3(BBS9):c.1537+14C>T rs754694089 0.00001
NM_198428.3(BBS9):c.1538-7T>G rs375661214 0.00001
NM_198428.3(BBS9):c.1645A>G (p.Thr549Ala) rs1310602174 0.00001
NM_198428.3(BBS9):c.1836A>G (p.Ile612Met) rs752845007 0.00001
NM_198428.3(BBS9):c.1855C>T (p.Arg619Cys) rs543113169 0.00001
NM_198428.3(BBS9):c.1910C>T (p.Ser637Leu) rs771777721 0.00001
NM_198428.3(BBS9):c.2032C>T (p.Arg678Cys) rs746543061 0.00001
NM_198428.3(BBS9):c.2070C>G (p.Ala690=) rs200515072 0.00001
NM_198428.3(BBS9):c.2365A>G (p.Lys789Glu) rs1402083567 0.00001
NM_198428.3(BBS9):c.2381A>G (p.Asn794Ser) rs774701632 0.00001
NM_198428.3(BBS9):c.2533A>G (p.Thr845Ala) rs545725547 0.00001
NM_198428.3(BBS9):c.2623C>T (p.Pro875Ser) rs755911247 0.00001
NM_198428.3(BBS9):c.272A>T (p.Glu91Val) rs886062283 0.00001
NM_198428.3(BBS9):c.761A>G (p.Asn254Ser) rs1279852557 0.00001
NM_198428.3(BBS9):c.894A>C (p.Glu298Asp) rs757469936 0.00001
NM_198428.3(BBS9):c.938A>G (p.His313Arg) rs533714503 0.00001
NM_198428.3(BBS9):c.*323A>G rs1864473091
NM_198428.3(BBS9):c.*729C>T rs1864525540
NM_198428.3(BBS9):c.-228T>G rs771734972
NM_198428.3(BBS9):c.-408T>G rs886062279
NM_198428.3(BBS9):c.1016+5G>T rs1800274291
NM_198428.3(BBS9):c.1052A>T (p.Asp351Val) rs1815378459
NM_198428.3(BBS9):c.1130A>G (p.Asn377Ser) rs886062285
NM_198428.3(BBS9):c.1245C>A (p.Val415=) rs61764066
NM_198428.3(BBS9):c.1249G>T (p.Val417Phe) rs751604593
NM_198428.3(BBS9):c.1370T>C (p.Leu457Ser) rs762511626
NM_198428.3(BBS9):c.1535C>T (p.Thr512Ile) rs886062286
NM_198428.3(BBS9):c.1790-1091A>G
NM_198428.3(BBS9):c.1799G>A (p.Arg600His) rs749018243
NM_198428.3(BBS9):c.1812del (p.Glu604fs) rs1229015450
NM_198428.3(BBS9):c.1844A>G (p.Glu615Gly) rs370925964
NM_198428.3(BBS9):c.1870_1872del (p.Phe624del) rs1302171532
NM_198428.3(BBS9):c.1923C>A (p.Pro641=) rs886062287
NM_198428.3(BBS9):c.19C>T (p.Arg7Cys) rs184994140
NM_198428.3(BBS9):c.2044G>A (p.Ala682Thr) rs772347593
NM_198428.3(BBS9):c.2080C>T (p.His694Tyr) rs2128756856
NM_198428.3(BBS9):c.2098G>A (p.Asp700Asn) rs1274816953
NM_198428.3(BBS9):c.20G>A (p.Arg7His) rs746340993
NM_198428.3(BBS9):c.20G>T (p.Arg7Leu) rs746340993
NM_198428.3(BBS9):c.2186G>A (p.Ser729Asn) rs1393453305
NM_198428.3(BBS9):c.2404C>T (p.Pro802Ser) rs886062288
NM_198428.3(BBS9):c.2521+951G>T
NM_198428.3(BBS9):c.2527T>C (p.Cys843Arg)
NM_198428.3(BBS9):c.328G>A (p.Gly110Arg)
NM_198428.3(BBS9):c.385C>T (p.His129Tyr) rs886062284
NM_198428.3(BBS9):c.396G>C (p.Gln132His) rs10255104
NM_198428.3(BBS9):c.443-37371A>G
NM_198428.3(BBS9):c.529G>T (p.Gly177Cys) rs750278720
NM_198428.3(BBS9):c.563C>T (p.Ser188Phe) rs2128312652
NM_198428.3(BBS9):c.794A>G (p.Glu265Gly)
NM_198428.3(BBS9):c.886+7A>G

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