ClinVar Miner

List of variants reported as pathogenic for ciliopathy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 312
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter) rs142371860 0.00031
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr) rs147718607 0.00022
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter) rs374144275 0.00019
NM_000549.5(TSHB):c.373del (p.Cys125fs) rs755485552 0.00017
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) rs777668842 0.00012
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777 0.00012
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244 0.00011
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter) rs201740530 0.00010
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_153240.5(NPHP3):c.2104C>T (p.Arg702Ter) rs267606916 0.00010
NM_153704.6(TMEM67):c.224-2del rs386834190 0.00010
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119 0.00009
NM_001277115.2(DNAH11):c.8698C>T (p.Arg2900Ter) rs368260932 0.00008
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter) rs752924362 0.00008
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs) rs606231259 0.00007
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 0.00007
NM_181426.2(CCDC39):c.357+1G>C rs397515392 0.00007
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter) rs200901816 0.00006
NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter) rs530569572 0.00006
NM_001384732.1(CPLANE1):c.2377C>T (p.Gln793Ter) rs776886962 0.00006
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596 0.00006
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter) rs200669099 0.00006
NM_014714.4(IFT140):c.1010-1G>A rs770185023 0.00006
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter) rs140039128 0.00006
NM_014714.4(IFT140):c.2399+1G>T rs376586707 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter) rs138320978 0.00006
NM_153240.5(NPHP3):c.958-2A>G rs780148543 0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_176824.3(BBS7):c.632C>T (p.Thr211Ile) rs119466002 0.00006
NM_001010892.3(RSPH4A):c.1351C>T (p.Gln451Ter) rs750528020 0.00005
NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs) rs1368105372 0.00005
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152 0.00005
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter) rs571919972 0.00004
NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter) rs563610095 0.00004
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter) rs141507441 0.00004
NM_001384732.1(CPLANE1):c.9046C>T (p.Arg3016Ter) rs150242262 0.00004
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198 0.00004
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg) rs149614625 0.00004
NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs) rs587778819 0.00004
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859 0.00004
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter) rs772170760 0.00004
NM_031885.5(BBS2):c.534+1G>T rs773862084 0.00004
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_152384.3(BBS5):c.619-1G>C rs753234582 0.00004
NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter) rs150332116 0.00004
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter) rs368110732 0.00003
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter) rs372659908 0.00003
NM_001369.3(DNAH5):c.5710-2A>G rs548521732 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_024649.5(BBS1):c.724-1G>C rs748523268 0.00003
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207 0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter) rs121908175 0.00003
NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter) rs182135982 0.00003
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) rs767400887 0.00003
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter) rs137852856 0.00003
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter) rs547352656 0.00002
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter) rs765263671 0.00002
NM_001134831.2(AHI1):c.2247dup (p.Leu750fs) rs1445681647 0.00002
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter) rs863225138 0.00002
NM_001256715.2(DNAAF3):c.350G>A (p.Trp117Ter) rs770403610 0.00002
NM_001378454.1(ALMS1):c.8161C>T (p.Arg2721Ter) rs193919340 0.00002
NM_001384732.1(CPLANE1):c.4804C>T (p.Arg1602Ter) rs367543063 0.00002
NM_001384732.1(CPLANE1):c.5557C>T (p.Gln1853Ter) rs766699868 0.00002
NM_015102.5(NPHP4):c.3272del (p.Val1091fs) rs1278089386 0.00002
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204 0.00002
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter) rs778533826 0.00002
NM_024685.4(BBS10):c.1244del (p.His415fs) rs760642305 0.00002
NM_024685.4(BBS10):c.687del (p.Val230fs) rs761101213 0.00002
NM_025114.4(CEP290):c.1066-1G>A rs965522059 0.00002
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter) rs776645403 0.00002
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter) rs770126103 0.00002
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562 0.00002
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter) rs762047808 0.00002
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter) rs764164384 0.00002
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033 0.00002
NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter) rs119456961 0.00002
NM_153240.5(NPHP3):c.469del (p.Arg157fs) rs773760404 0.00002
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter) rs751517725 0.00002
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) rs765468645 0.00002
NM_000549.5(TSHB):c.162+5G>A rs868637545 0.00001
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter) rs387907009 0.00001
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter) rs373909351 0.00001
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter) rs863225143 0.00001
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641 0.00001
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter) rs751734985 0.00001
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) rs201391050 0.00001
NM_001256715.2(DNAAF3):c.265C>T (p.Arg89Ter) rs387907152 0.00001
NM_001277115.2(DNAH11):c.3544C>T (p.Arg1182Ter) rs374107286 0.00001
NM_001277115.2(DNAH11):c.6004C>T (p.Arg2002Ter) rs373844629 0.00001
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107 0.00001
NM_001369.3(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer) rs755136231 0.00001
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs) rs760264695 0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter) rs539612316 0.00001
NM_001378454.1(ALMS1):c.360_363dup (p.Tyr122fs) rs753301358 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 0.00001
NM_001378454.1(ALMS1):c.5903C>G (p.Ser1968Ter) rs1490127694 0.00001
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161 0.00001
NM_001382391.1(CSPP1):c.1697+1G>T rs863225193 0.00001
NM_001384732.1(CPLANE1):c.7400+1G>A rs367543062 0.00001
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter) rs749523755 0.00001
NM_001384732.1(CPLANE1):c.8425_8426insG (p.Thr2809fs) rs1554064102 0.00001
NM_001384732.1(CPLANE1):c.9017+1G>A rs863225154 0.00001
NM_012472.6(DNAAF11):c.598_599del (p.Lys200fs) rs397515424 0.00001
NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter) rs1025515771 0.00001
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter) rs145665129 0.00001
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter) rs750338419 0.00001
NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter) rs754867753 0.00001
NM_024649.5(BBS1):c.118del (p.Cys40fs) rs1490351829 0.00001
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter) rs745656125 0.00001
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444 0.00001
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) rs786204575 0.00001
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277 0.00001
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter) rs760415289 0.00001
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) rs780225183 0.00001
NM_025114.4(CEP290):c.437del (p.Glu146fs) rs1452465499 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) rs137852835 0.00001
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter) rs121908176 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.563del (p.Ile188fs) rs1367927635 0.00001
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter) rs779690256 0.00001
NM_130810.4(DNAAF4):c.808C>T (p.Arg270Ter) rs397515621 0.00001
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs) rs772840335 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327 0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089 0.00001
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter) rs1485445500 0.00001
NM_153240.5(NPHP3):c.3373C>T (p.Arg1125Ter) rs368138001 0.00001
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys) rs863225235 0.00001
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter) rs751309268 0.00001
NM_153704.6(TMEM67):c.312+5G>A rs786200868 0.00001
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616 0.00001
NM_170784.3(MKKS):c.415C>T (p.Arg139Ter) rs142394051 0.00001
NM_170784.3(MKKS):c.986-1G>A rs200633158 0.00001
NM_198525.3(KIF7):c.1019dup (p.Asn341fs) rs1964065704 0.00001
GRCh37/hg19 2q13(chr2:110880893-110962659)
GRCh37/hg19 2q13(chr2:110880925-110962590)
NM_001010892.3(RSPH4A):c.1270del (p.Thr424fs) rs397518456
NM_001010892.3(RSPH4A):c.1662+2_1662+5del rs768986129
NM_001010892.3(RSPH4A):c.921+3_921+6del rs869320683
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter) rs371637724
NM_001134831.2(AHI1):c.910dup (p.Thr304fs) rs753874898
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001277115.2(DNAH11):c.11968-1G>C rs1783569129
NM_001369.3(DNAH5):c.11725C>T (p.Arg3909Ter) rs1060501464
NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter) rs2126564103
NM_001369.3(DNAH5):c.13060del (p.Ala4354fs) rs1370489117
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.376del (p.Val126fs) rs35129409
NM_001369.3(DNAH5):c.5281C>T (p.Arg1761Ter) rs148891849
NM_001369.3(DNAH5):c.5890_5894dup (p.Leu1966fs) rs1436141222
NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter) rs375019820
NM_001378454.1(ALMS1):c.10566_10567del (p.His3522fs) rs1163532771
NM_001378454.1(ALMS1):c.10828_10829del (p.Arg3610fs) rs755616266
NM_001378454.1(ALMS1):c.10972C>T (p.Arg3658Ter) rs780438592
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs) rs747272625
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs) rs768759374
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.2138_2139del (p.Ser713fs) rs387906313
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs) rs771459937
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs) rs1553403851
NM_001378454.1(ALMS1):c.4820dup (p.Thr1608fs) rs758098717
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter) rs28730854
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter) rs770558150
NM_001378454.1(ALMS1):c.7301_7302del (p.Glu2434fs) rs1246023978
NM_001378454.1(ALMS1):c.7372_7373del (p.Thr2457_Asp2458insTer) rs1225343345
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter) rs376244626
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs) rs587777139
NM_001384732.1(CPLANE1):c.1372-2A>G rs886043786
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.2709G>A (p.Trp903Ter) rs863225164
NM_001384732.1(CPLANE1):c.3130_3131insA (p.Arg1044fs) rs863225161
NM_001384732.1(CPLANE1):c.510del (p.Leu171fs) rs779680371
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter) rs312262810
NM_003611.3(OFD1):c.1411+1G>A rs2147027077
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003611.3(OFD1):c.710dup (p.Tyr238fs) rs312262845
NM_006642.5(SDCCAG8):c.784G>T (p.Glu262Ter) rs149038104
NM_006642.5(SDCCAG8):c.99_100del (p.Ala35fs) rs1033766338
NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter) rs1166261279
NM_014714.4(IFT140):c.1380del (p.Asn460fs) rs431905522
NM_014956.5(CEP164):c.1264_1265insTGGCTGG (p.His422fs) rs2042674113
NM_015102.5(NPHP4):c.1271del (p.Lys424fs) rs770306587
NM_015102.5(NPHP4):c.3644+1G>T rs756111113
NM_015102.5(NPHP4):c.3773_3776del (p.Val1258fs) rs776535691
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) rs778149316
NM_015662.3(IFT172):c.1342_1343del (p.Arg448fs) rs1558404443
NM_015662.3(IFT172):c.2158del (p.Arg720fs) rs587777086
NM_015662.3(IFT172):c.4925_4928del (p.Arg1642fs) rs587777078
NM_015910.7(WDPCP):c.1809_1812+6del rs2103953112
NM_016343.4(CENPF):c.1744G>T (p.Glu582Ter) rs367624766
NM_016343.4(CENPF):c.8692C>T (p.Arg2898Ter) rs786205697
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017950.4(CCDC40):c.1345C>T (p.Arg449Ter) rs387907093
NM_021147.5(CCNO):c.248_252dup (p.Gly85fs) rs587777498
NM_021147.5(CCNO):c.258_262dup (p.Gln88fs) rs587777499
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) rs1057516451
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter) rs1057517143
NM_024649.5(BBS1):c.887del (p.Ile296fs) rs794727006
NM_024649.5(BBS1):c.951+58C>T rs1856346961
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs) rs587777837
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter) rs1340165752
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter) rs1565809478
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.728_731del (p.Lys243fs) rs786204671
NM_024685.4(BBS10):c.909_912del (p.Ser303fs) rs780059308
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs) rs2136091654
NM_024753.5(TTC21B):c.1038G>A (p.Trp346Ter) rs2105344578
NM_024753.5(TTC21B):c.1320del (p.Phe440fs) rs775836730
NM_024753.5(TTC21B):c.264_267dupTAGA rs748514860
NM_024753.5(TTC21B):c.3087del (p.Gly1030fs) rs2105291970
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs) rs886043303
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1830del (p.Glu610fs) rs992032116
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter) rs753884599
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.297+1G>A rs878853360
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer) rs62640570
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs) rs878853362
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter) rs779645669
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs) rs1592833648
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.5580del (p.Leu1861fs) rs1592807018
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs) rs727503853
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs) rs281865188
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs) rs62638180
NM_025114.4(CEP290):c.5850del (p.Phe1950fs) rs386834159
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_025114.4(CEP290):c.679_680del (p.Glu227fs) rs62640578
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter) rs2138086844
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs) rs747138345
NM_025114.4(CEP290):c.7341del (p.Lys2447fs) rs281865189
NM_025114.4(CEP290):c.828del (p.Glu277fs) rs1555225566
NM_025132.4(WDR19):c.641dup (p.Leu214fs) rs587777348
NM_031885.5(BBS2):c.402del (p.Ala136fs) rs1368647604
NM_033028.5(BBS4):c.1226del (p.Ser409fs) rs886039800
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs) rs1281334523
NM_147127.5(EVC2):c.273dup (p.Lys92Ter) rs2151739536
NM_152618.3(BBS12):c.1082del (p.Gly361fs) rs1057517193
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_152618.3(BBS12):c.172G>T (p.Glu58Ter) rs759455327
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter) rs1553941580
NM_152618.3(BBS12):c.2060_2063del (p.Asp687fs) rs746478265
NM_152618.3(BBS12):c.670dup (p.Thr224fs) rs1339432710
NM_152732.5(RSPH9):c.801GAA[1] (p.Lys268del) rs397515340
NM_153240.5(NPHP3):c.434_437del (p.Glu145fs) rs763300393
NM_153240.5(NPHP3):c.520-1G>T rs759262253
NM_153704.6(TMEM67):c.2410G>T (p.Glu804Ter) rs1554558363
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs) rs767913372
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter) rs779915989
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs) rs2122235362
NM_176824.3(BBS7):c.1002del (p.Asn335fs) rs762782183
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer) rs773139166
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs) rs672601379
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
NM_177965.4(CFAP418):c.124del (p.Arg42fs) rs1563477144
NM_181426.2(CCDC39):c.1045del (p.Thr349fs) rs747980515
NM_181426.2(CCDC39):c.2040_2043del (p.Cys680fs) rs1174553107
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs) rs773801386
NM_198428.3(BBS9):c.1789+1G>A rs201938124
NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter) rs948418225
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_198428.3(BBS9):c.310del (p.Cys104fs) rs747388658

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.