ClinVar Miner

List of variants studied for Joubert syndrome 25 by Invitae

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Total variants: 197
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HGVS dbSNP gnomAD frequency
NM_014704.4(CEP104):c.1836+7A>G rs6413779 0.91575
NM_014704.4(CEP104):c.744A>G (p.Glu248=) rs1891941 0.91572
NM_014704.4(CEP104):c.2152-11C>T rs6663840 0.38899
NM_014704.4(CEP104):c.1240T>A (p.Leu414Ile) rs2275824 0.32901
NM_014704.4(CEP104):c.566+6A>T rs72848418 0.12842
NM_014704.4(CEP104):c.2057C>T (p.Ala686Val) rs2275831 0.08430
NM_014704.4(CEP104):c.735+17A>G rs2298224 0.02006
NM_014704.4(CEP104):c.681G>A (p.Lys227=) rs61746709 0.01114
NM_014704.4(CEP104):c.2569G>A (p.Glu857Lys) rs111626991 0.00830
NM_014704.4(CEP104):c.1836+14G>A rs75027831 0.00691
NM_014704.4(CEP104):c.552A>T (p.Glu184Asp) rs61745578 0.00658
NM_014704.4(CEP104):c.1363C>T (p.Leu455=) rs115015364 0.00657
NM_014704.4(CEP104):c.177G>A (p.Leu59=) rs79859848 0.00657
NM_014704.4(CEP104):c.1386A>G (p.Leu462=) rs76234817 0.00655
NM_014704.4(CEP104):c.416T>C (p.Ile139Thr) rs76925798 0.00433
NM_014704.4(CEP104):c.1884G>T (p.Thr628=) rs12144567 0.00398
NM_014704.4(CEP104):c.1914A>G (p.Arg638=) rs2275829 0.00386
NM_014704.4(CEP104):c.1317+17A>C rs370703159 0.00363
NM_014704.4(CEP104):c.1308A>T (p.Gly436=) rs148455387 0.00305
NM_014704.4(CEP104):c.490-18G>A rs150128798 0.00289
NM_014704.4(CEP104):c.1966C>T (p.Arg656Cys) rs148465057 0.00276
NM_014704.4(CEP104):c.1169A>G (p.His390Arg) rs145728798 0.00191
NM_014704.4(CEP104):c.588G>A (p.Pro196=) rs141751043 0.00173
NM_014704.4(CEP104):c.1340C>T (p.Thr447Met) rs138897239 0.00142
NM_014704.4(CEP104):c.2736C>T (p.Gly912=) rs148360595 0.00114
NM_014704.4(CEP104):c.2124A>G (p.Ala708=) rs139817583 0.00107
NM_014704.4(CEP104):c.2255+10G>A rs140847871 0.00106
NM_014704.4(CEP104):c.664C>T (p.Arg222Trp) rs142899837 0.00050
NM_014704.4(CEP104):c.1453G>A (p.Val485Ile) rs11800891 0.00047
NM_014704.4(CEP104):c.2439C>T (p.Tyr813=) rs78228821 0.00046
NM_014704.4(CEP104):c.843C>T (p.Ala281=) rs150027992 0.00046
NM_014704.4(CEP104):c.2644G>T (p.Ala882Ser) rs185664269 0.00044
NM_014704.4(CEP104):c.2621G>A (p.Arg874His) rs139076247 0.00041
NM_014704.4(CEP104):c.2423G>A (p.Gly808Glu) rs148877817 0.00040
NM_014704.4(CEP104):c.1653T>C (p.Phe551=) rs141730324 0.00039
NM_014704.4(CEP104):c.278G>A (p.Arg93Gln) rs199576006 0.00037
NM_014704.4(CEP104):c.2234C>T (p.Pro745Leu) rs201407033 0.00031
NM_014704.4(CEP104):c.2282G>A (p.Ser761Asn) rs537512159 0.00029
NM_014704.4(CEP104):c.550G>C (p.Glu184Gln) rs146922115 0.00028
NM_014704.4(CEP104):c.626A>G (p.Glu209Gly) rs140029326 0.00028
NM_014704.4(CEP104):c.2766C>T (p.Tyr922=) rs750794560 0.00027
NM_014704.4(CEP104):c.1883C>T (p.Thr628Met) rs148397021 0.00026
NM_014704.4(CEP104):c.932G>A (p.Arg311His) rs140022279 0.00025
NM_014704.4(CEP104):c.1851C>T (p.Ala617=) rs150585805 0.00022
NM_014704.4(CEP104):c.612G>A (p.Met204Ile) rs141906706 0.00022
NM_014704.4(CEP104):c.906T>G (p.Phe302Leu) rs529153686 0.00021
NM_014704.4(CEP104):c.1820T>C (p.Ile607Thr) rs140512094 0.00020
NM_014704.4(CEP104):c.2182A>G (p.Asn728Asp) rs144805659 0.00019
NM_014704.4(CEP104):c.2571+6G>A rs373332298 0.00016
NM_014704.4(CEP104):c.1953C>T (p.Asp651=) rs187512647 0.00015
NM_014704.4(CEP104):c.487A>C (p.Thr163Pro) rs200208264 0.00015
NM_014704.4(CEP104):c.2564G>A (p.Gly855Glu) rs148840465 0.00014
NM_014704.4(CEP104):c.1003C>T (p.Gln335Ter) rs144744629 0.00011
NM_014704.4(CEP104):c.1120-5T>A rs200748628 0.00011
NM_014704.4(CEP104):c.1950A>G (p.Pro650=) rs150482833 0.00011
NM_014704.4(CEP104):c.2737G>A (p.Gly913Arg) rs201733773 0.00011
NM_014704.4(CEP104):c.1297G>A (p.Asp433Asn) rs149976444 0.00009
NM_014704.4(CEP104):c.272G>A (p.Arg91Gln) rs200411994 0.00009
NM_014704.4(CEP104):c.113+14G>A rs369214357 0.00008
NM_014704.4(CEP104):c.1485+20G>A rs368037840 0.00008
NM_014704.4(CEP104):c.561C>T (p.Tyr187=) rs374191673 0.00007
NM_014704.4(CEP104):c.1194G>A (p.Pro398=) rs372294561 0.00006
NM_014704.4(CEP104):c.1583G>C (p.Arg528Thr) rs753327824 0.00006
NM_014704.4(CEP104):c.2649G>A (p.Pro883=) rs747029336 0.00006
NM_014704.4(CEP104):c.1317+3A>T rs35165199 0.00005
NM_014704.4(CEP104):c.1570C>T (p.His524Tyr) rs778672499 0.00005
NM_014704.4(CEP104):c.2658G>A (p.Gln886=) rs202022682 0.00004
NM_014704.4(CEP104):c.2662+10A>T rs552644535 0.00004
NM_014704.4(CEP104):c.2755A>G (p.Ser919Gly) rs755406055 0.00004
NM_014704.4(CEP104):c.342A>C (p.Lys114Asn) rs779086283 0.00004
NM_014704.4(CEP104):c.46G>A (p.Glu16Lys) rs200997681 0.00004
NM_014704.4(CEP104):c.535G>A (p.Glu179Lys) rs765557028 0.00004
NM_014704.4(CEP104):c.1631T>A (p.Leu544His) rs772547053 0.00003
NM_014704.4(CEP104):c.560A>G (p.Tyr187Cys) rs749228961 0.00003
NM_014704.4(CEP104):c.781G>A (p.Val261Met) rs768279838 0.00003
NM_014704.4(CEP104):c.1485C>T (p.Ser495=) rs371540690 0.00002
NM_014704.4(CEP104):c.2001A>G (p.Gly667=) rs767101698 0.00002
NM_014704.4(CEP104):c.719T>C (p.Ile240Thr) rs752655065 0.00002
NM_014704.4(CEP104):c.1226G>A (p.Arg409Gln) rs143501631 0.00001
NM_014704.4(CEP104):c.14T>C (p.Ile5Thr) rs778380560 0.00001
NM_014704.4(CEP104):c.1659+8C>T rs778868893 0.00001
NM_014704.4(CEP104):c.2137C>G (p.Gln713Glu) rs1311531310 0.00001
NM_014704.4(CEP104):c.2160A>G (p.Glu720=) rs754348247 0.00001
NM_014704.4(CEP104):c.22G>T (p.Val8Leu) rs1195974342 0.00001
NM_014704.4(CEP104):c.2441G>A (p.Arg814His) rs367663524 0.00001
NM_014704.4(CEP104):c.2514G>A (p.Pro838=) rs578262183 0.00001
NM_014704.4(CEP104):c.313A>G (p.Lys105Glu) rs55720731 0.00001
NM_014704.4(CEP104):c.453T>G (p.Ile151Met) rs757425751 0.00001
NM_014704.4(CEP104):c.686G>A (p.Arg229His) rs1027030686 0.00001
NM_014704.4(CEP104):c.729G>A (p.Leu243=) rs897283929 0.00001
NM_014704.4(CEP104):c.759T>G (p.Tyr253Ter) rs372048855 0.00001
NC_000001.10:g.(?_3731966)_(3768971_?)dup
NC_000001.10:g.(?_861322)_(3768971_?)del
NC_000001.11:g.(?_3815382)_(3852427_?)del
NC_000001.11:g.3823227_3823243del
NM_014704.4(CEP104):c.1033C>G (p.Pro345Ala)
NM_014704.4(CEP104):c.1082C>G (p.Pro361Arg)
NM_014704.4(CEP104):c.1082_1091del (p.Pro361fs) rs776094913
NM_014704.4(CEP104):c.1083G>A (p.Pro361=) rs61740614
NM_014704.4(CEP104):c.113+19G>A
NM_014704.4(CEP104):c.113+7A>C
NM_014704.4(CEP104):c.1136A>G (p.Tyr379Cys)
NM_014704.4(CEP104):c.1199T>A (p.Met400Lys)
NM_014704.4(CEP104):c.1213A>G (p.Ile405Val)
NM_014704.4(CEP104):c.1216A>G (p.Ser406Gly)
NM_014704.4(CEP104):c.1217G>A (p.Ser406Asn) rs1570811185
NM_014704.4(CEP104):c.123G>A (p.Gln41=)
NM_014704.4(CEP104):c.1317+12_1317+13insC
NM_014704.4(CEP104):c.1317+15_1317+16insAAC rs762038535
NM_014704.4(CEP104):c.1317+15_1317+16insC
NM_014704.4(CEP104):c.1317+16A>C
NM_014704.4(CEP104):c.1317+17_1317+18insC
NM_014704.4(CEP104):c.1331A>G (p.Tyr444Cys)
NM_014704.4(CEP104):c.1444G>A (p.Val482Ile)
NM_014704.4(CEP104):c.1473C>T (p.Asp491=)
NM_014704.4(CEP104):c.1479G>A (p.Val493=)
NM_014704.4(CEP104):c.1485+14G>A rs2124668323
NM_014704.4(CEP104):c.1496C>T (p.Ala499Val)
NM_014704.4(CEP104):c.1550T>C (p.Leu517Pro) rs1644264163
NM_014704.4(CEP104):c.1588A>G (p.Ile530Val) rs561088543
NM_014704.4(CEP104):c.1635C>T (p.Arg545=)
NM_014704.4(CEP104):c.1636G>A (p.Val546Ile)
NM_014704.4(CEP104):c.163C>T (p.Arg55Ter)
NM_014704.4(CEP104):c.1651T>G (p.Phe551Val)
NM_014704.4(CEP104):c.1659+16C>T
NM_014704.4(CEP104):c.1659+17G>A
NM_014704.4(CEP104):c.1660-4A>C
NM_014704.4(CEP104):c.166A>T (p.Ile56Leu) rs2124693591
NM_014704.4(CEP104):c.1716G>A (p.Val572=) rs1570796463
NM_014704.4(CEP104):c.1745del (p.His582fs)
NM_014704.4(CEP104):c.1809G>A (p.Ser603=)
NM_014704.4(CEP104):c.1836+16G>A
NM_014704.4(CEP104):c.1877G>A (p.Arg626His)
NM_014704.4(CEP104):c.1905C>T (p.Asp635=) rs2124656471
NM_014704.4(CEP104):c.1906A>G (p.Met636Val)
NM_014704.4(CEP104):c.2005G>A (p.Ala669Thr) rs761349278
NM_014704.4(CEP104):c.2043+7del
NM_014704.4(CEP104):c.2111G>A (p.Gly704Glu) rs139181137
NM_014704.4(CEP104):c.2127G>C (p.Leu709=) rs1228921351
NM_014704.4(CEP104):c.2151+15C>T
NM_014704.4(CEP104):c.2151+16G>A
NM_014704.4(CEP104):c.2151+3T>C rs771237087
NM_014704.4(CEP104):c.2183A>G (p.Asn728Ser)
NM_014704.4(CEP104):c.2214T>C (p.Pro738=) rs2124649026
NM_014704.4(CEP104):c.2246A>C (p.Tyr749Ser)
NM_014704.4(CEP104):c.2255+8G>A
NM_014704.4(CEP104):c.2325G>A (p.Lys775=)
NM_014704.4(CEP104):c.2344A>C (p.Arg782=)
NM_014704.4(CEP104):c.2365-18C>G
NM_014704.4(CEP104):c.2460C>T (p.Phe820=)
NM_014704.4(CEP104):c.2503+17A>G
NM_014704.4(CEP104):c.2504-14T>A
NM_014704.4(CEP104):c.254C>T (p.Ala85Val)
NM_014704.4(CEP104):c.2601C>T (p.Ala867=)
NM_014704.4(CEP104):c.2662+12C>T
NM_014704.4(CEP104):c.2662+13G>A
NM_014704.4(CEP104):c.2684C>A (p.Ala895Glu) rs754145994
NM_014704.4(CEP104):c.2684C>T (p.Ala895Val) rs754145994
NM_014704.4(CEP104):c.2703A>G (p.Ser901=) rs369737290
NM_014704.4(CEP104):c.2709C>T (p.Ala903=)
NM_014704.4(CEP104):c.2730G>A (p.Pro910=)
NM_014704.4(CEP104):c.2751C>T (p.Ser917=) rs538187962
NM_014704.4(CEP104):c.2775C>T (p.Arg925=)
NM_014704.4(CEP104):c.286G>C (p.Gly96Arg) rs2124693275
NM_014704.4(CEP104):c.290A>G (p.Tyr97Cys)
NM_014704.4(CEP104):c.300_301del (p.Leu100_Cys101insTer) rs1484807480
NM_014704.4(CEP104):c.390C>T (p.His130=) rs1011573112
NM_014704.4(CEP104):c.426+19C>T
NM_014704.4(CEP104):c.426+20G>A
NM_014704.4(CEP104):c.45C>T (p.His15=)
NM_014704.4(CEP104):c.485A>G (p.Asn162Ser) rs867268929
NM_014704.4(CEP104):c.489+15T>C
NM_014704.4(CEP104):c.490G>T (p.Ala164Ser) rs140856596
NM_014704.4(CEP104):c.497G>A (p.Arg166Gln)
NM_014704.4(CEP104):c.520C>T (p.Leu174Phe)
NM_014704.4(CEP104):c.558G>A (p.Thr186=) rs2275822
NM_014704.4(CEP104):c.566+12G>A
NM_014704.4(CEP104):c.590T>C (p.Leu197Pro)
NM_014704.4(CEP104):c.595G>A (p.Asp199Asn) rs1557681983
NM_014704.4(CEP104):c.606T>C (p.Phe202=)
NM_014704.4(CEP104):c.65G>A (p.Arg22Gln)
NM_014704.4(CEP104):c.736-19_736-18delinsAT rs2124676799
NM_014704.4(CEP104):c.772C>T (p.Arg258Cys)
NM_014704.4(CEP104):c.805G>A (p.Ala269Thr)
NM_014704.4(CEP104):c.817A>C (p.Lys273Gln)
NM_014704.4(CEP104):c.838C>T (p.Arg280Cys) rs139901107
NM_014704.4(CEP104):c.83C>T (p.Ala28Val)
NM_014704.4(CEP104):c.885C>T (p.Ala295=)
NM_014704.4(CEP104):c.886G>A (p.Glu296Lys)
NM_014704.4(CEP104):c.891+20C>T
NM_014704.4(CEP104):c.892-16C>G
NM_014704.4(CEP104):c.906T>A (p.Phe302Leu)
NM_014704.4(CEP104):c.927C>T (p.Leu309=)
NM_014704.4(CEP104):c.928G>A (p.Ala310Thr) rs370867227
NM_014704.4(CEP104):c.931C>T (p.Arg311Cys)
NM_014704.4(CEP104):c.961A>G (p.Met321Val)
NM_014704.4(CEP104):c.984A>G (p.Glu328=)

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