ClinVar Miner

List of variants studied for Cone-rod dystrophy 12

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ClinVar version:
Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_006017.3(PROM1):c.*1078A>G rs3130 0.53940
NM_006017.3(PROM1):c.303+6G>A rs2078622 0.39397
NM_006017.3(PROM1):c.2374-6T>C rs6449209 0.34571
NM_006017.3(PROM1):c.2582+43C>T rs11725522 0.22599
NM_006017.3(PROM1):c.*667A>C rs2240688 0.21643
NM_006017.3(PROM1):c.2281-6C>G rs3815344 0.20394
NM_006017.3(PROM1):c.1003-35A>C rs2286458 0.09908
NM_006017.3(PROM1):c.786G>A (p.Ala262=) rs2286455 0.09727
NM_006017.3(PROM1):c.129C>T (p.Thr43=) rs10033086 0.09038
NM_006017.3(PROM1):c.15C>T (p.Leu5=) rs10033189 0.06194
NM_006017.3(PROM1):c.1983+14G>A rs4698436 0.04569
NM_006017.3(PROM1):c.228G>A (p.Leu76=) rs76963591 0.03578
NM_006017.3(PROM1):c.1768-5C>T rs55708318 0.03551
NM_006017.3(PROM1):c.631-14T>C rs16892824 0.01667
NM_006017.3(PROM1):c.55T>G (p.Ser19Ala) rs189108830 0.00928
NM_006017.3(PROM1):c.1751A>G (p.His584Arg) rs140027620 0.00608
NM_006017.3(PROM1):c.1911+14G>A rs79077926 0.00565
NM_006017.3(PROM1):c.1683-3C>T rs143470288 0.00518
NM_006017.3(PROM1):c.*684C>T rs140362696 0.00468
NM_006017.3(PROM1):c.1497C>T (p.Ile499=) rs113895168 0.00318
NM_006017.3(PROM1):c.1977C>T (p.Asn659=) rs149028760 0.00222
NM_006017.3(PROM1):c.-25T>A rs149845694 0.00194
NM_006017.3(PROM1):c.1579-6T>C rs181261277 0.00190
NM_006017.3(PROM1):c.1345G>A (p.Val449Met) rs200620291 0.00152
NM_006017.3(PROM1):c.2211+7C>T rs372262346 0.00146
NM_006017.3(PROM1):c.868A>C (p.Ser290Arg) rs182096110 0.00137
NM_006017.3(PROM1):c.*1149A>G rs543722299 0.00083
NM_006017.3(PROM1):c.714A>G (p.Gly238=) rs201662148 0.00079
NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe) rs200520976 0.00070
NM_006017.3(PROM1):c.*189A>G rs537324748 0.00068
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly) rs62617075 0.00065
NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly) rs202029748 0.00058
NM_006017.3(PROM1):c.*1052G>A rs577484119 0.00037
NM_006017.3(PROM1):c.-168G>A rs180926533 0.00036
NM_006017.3(PROM1):c.2112C>T (p.Arg704=) rs375358457 0.00036
NM_006017.3(PROM1):c.1911+8G>A rs370302107 0.00033
NM_006017.3(PROM1):c.963G>T (p.Leu321Phe) rs202041422 0.00026
NM_006017.3(PROM1):c.678G>A (p.Ala226=) rs187116049 0.00025
NM_006017.3(PROM1):c.2271C>T (p.Ile757=) rs375986111 0.00022
NM_006017.3(PROM1):c.181A>G (p.Ile61Val) rs201701647 0.00021
NM_006017.3(PROM1):c.843C>T (p.His281=) rs374394451 0.00019
NM_006017.3(PROM1):c.1279T>C (p.Leu427=) rs200710798 0.00016
NM_006017.3(PROM1):c.376G>A (p.Val126Met) rs199556426 0.00012
NM_006017.3(PROM1):c.556C>T (p.Arg186Trp) rs369512467 0.00011
NM_006017.3(PROM1):c.731G>A (p.Arg244Gln) rs369815021 0.00011
NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn) rs146434364 0.00010
NM_006017.3(PROM1):c.-148G>A rs75531222 0.00009
NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter) rs137853907 0.00009
NM_006017.3(PROM1):c.1738A>C (p.Asn580His) rs199674847 0.00007
NM_006017.3(PROM1):c.717C>T (p.Gly239=) rs763697898 0.00007
NM_006017.3(PROM1):c.*580T>A rs1250583925 0.00006
NM_006017.3(PROM1):c.-127A>G rs886059206 0.00006
NM_006017.3(PROM1):c.2364C>T (p.Ile788=) rs551849678 0.00006
NM_006017.3(PROM1):c.277-15C>T rs372599685 0.00006
NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser) rs201748228 0.00005
NM_006017.3(PROM1):c.1344C>T (p.Ile448=) rs147174580 0.00005
NM_006017.3(PROM1):c.1407G>A (p.Pro469=) rs763710252 0.00005
NM_006017.3(PROM1):c.155T>C (p.Ile52Thr) rs778896066 0.00005
NM_006017.3(PROM1):c.718G>A (p.Gly240Arg) rs752543587 0.00005
NM_006017.3(PROM1):c.*1070A>G rs886059195 0.00004
NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys) rs770268627 0.00004
NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro) rs140682455 0.00004
NM_006017.3(PROM1):c.1301+11C>A rs189953160 0.00004
NM_006017.3(PROM1):c.1301+2T>C rs775957498 0.00004
NM_006017.3(PROM1):c.1579-12A>C rs370183490 0.00004
NM_006017.3(PROM1):c.1301+10T>A rs192338518 0.00003
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) rs761911901 0.00003
NM_006017.3(PROM1):c.276+15G>T rs766012920 0.00003
NM_006017.3(PROM1):c.706G>A (p.Val236Met) rs536161084 0.00003
NM_006017.3(PROM1):c.1377C>T (p.Gly459=) rs779072238 0.00002
NM_006017.3(PROM1):c.1982T>C (p.Leu661Ser) rs372632641 0.00002
NM_006017.3(PROM1):c.792G>A (p.Lys264=) rs776605111 0.00002
NM_004750.5(CRLF1):c.397+1G>A rs137853932 0.00001
NM_006017.3(PROM1):c.*198T>C rs1713762475 0.00001
NM_006017.3(PROM1):c.*681C>G rs947805890 0.00001
NM_006017.3(PROM1):c.*781G>A rs1713636052 0.00001
NM_006017.3(PROM1):c.*963A>G rs886059196 0.00001
NM_006017.3(PROM1):c.*985C>G rs937617123 0.00001
NM_006017.3(PROM1):c.1002+5G>A rs1196489060 0.00001
NM_006017.3(PROM1):c.1142-1G>A rs752619497 0.00001
NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter) rs886037880 0.00001
NM_006017.3(PROM1):c.1387T>C (p.Tyr463His) rs1297490531 0.00001
NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys) rs536622788 0.00001
NM_006017.3(PROM1):c.1578+9G>C rs747638667 0.00001
NM_006017.3(PROM1):c.158G>A (p.Gly53Asp) rs755064227 0.00001
NM_006017.3(PROM1):c.1710C>T (p.Tyr570=) rs201644238 0.00001
NM_006017.3(PROM1):c.1717C>T (p.Leu573Phe) rs886059201 0.00001
NM_006017.3(PROM1):c.1902C>G (p.Tyr634Ter) rs2475275702 0.00001
NM_006017.3(PROM1):c.2050C>T (p.Arg684Ter) rs530749007 0.00001
NM_006017.3(PROM1):c.2309C>A (p.Pro770His) rs568361529 0.00001
NM_006017.3(PROM1):c.2397A>G (p.Gly799=) rs931618095 0.00001
NM_006017.3(PROM1):c.2551G>A (p.Val851Ile) rs201910962 0.00001
NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala) rs747844753 0.00001
NM_006017.3(PROM1):c.2582+9A>C rs200033458 0.00001
NM_006017.3(PROM1):c.652C>T (p.Gln218Ter) rs374017889 0.00001
NM_006017.3(PROM1):c.677C>T (p.Ala226Val) rs376198840 0.00001
NM_006017.3(PROM1):c.730C>T (p.Arg244Ter) rs373331232 0.00001
NM_006017.3(PROM1):c.*107G>T rs1024479425
NM_006017.3(PROM1):c.*1143A>C rs544424652
NM_006017.3(PROM1):c.*1160A>G rs886059194
NM_006017.3(PROM1):c.*551A>T rs886059197
NM_006017.3(PROM1):c.*640T>A rs1713667197
NM_006017.3(PROM1):c.1036A>G (p.Asn346Asp) rs1414948996
NM_006017.3(PROM1):c.105A>G (p.Glu35=) rs886059205
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.3(PROM1):c.11T>C (p.Val4Ala) rs1743863519
NM_006017.3(PROM1):c.1218C>G (p.Leu406=) rs886059203
NM_006017.3(PROM1):c.1271T>C (p.Leu424Ser) rs886059202
NM_006017.3(PROM1):c.1279T>A (p.Leu427Met) rs200710798
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.139del (p.His47fs) rs747512450
NM_006017.3(PROM1):c.1853T>G (p.Leu618Arg)
NM_006017.3(PROM1):c.1871G>A (p.Cys624Tyr) rs886059200
NM_006017.3(PROM1):c.1954T>G (p.Tyr652Asp) rs768320190
NM_006017.3(PROM1):c.2050C>G (p.Arg684Gly) rs530749007
NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg) rs199727800
NM_006017.3(PROM1):c.2118del (p.Asn707fs) rs2475104632
NM_006017.3(PROM1):c.2281-20_2281-11del rs886037881
NM_006017.3(PROM1):c.2281-5C>G rs777654968
NM_006017.3(PROM1):c.2309del (p.Pro770fs) rs878853400
NM_006017.3(PROM1):c.2373+13C>G rs886059199
NM_006017.3(PROM1):c.2461C>T (p.Arg821Ter) rs766357803
NM_006017.3(PROM1):c.2476G>C (p.Asp826His) rs1333833629
NM_006017.3(PROM1):c.2480T>C (p.Val827Ala) rs886059198
NM_006017.3(PROM1):c.2489+8T>C rs1433533825
NM_006017.3(PROM1):c.2508G>A (p.Met836Ile) rs534529507
NM_006017.3(PROM1):c.250T>A (p.Tyr84Asn) rs1734560540
NM_006017.3(PROM1):c.2540A>G (p.His847Arg) rs1717178592
NM_006017.3(PROM1):c.262dup (p.Ile88fs) rs1210104601
NM_006017.3(PROM1):c.380G>A (p.Gly127Glu) rs1733212554
NM_006017.3(PROM1):c.380G>T (p.Gly127Val) rs1733212554
NM_006017.3(PROM1):c.449A>G (p.Asn150Ser) rs1733188880
NM_006017.3(PROM1):c.642T>A (p.Tyr214Ter) rs368213921
NM_006017.3(PROM1):c.914dup (p.Leu306fs)
NM_033100.4(CDHR1):c.849C>A (p.Tyr283Ter)

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