ClinVar Miner

List of variants studied for cataract 6 multiple types by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_004431.5(EPHA2):c.987C>T (p.Pro329=) rs2230597 0.37785
NM_004431.5(EPHA2):c.573G>A (p.Leu191=) rs6678616 0.27639
NM_004431.5(EPHA2):c.570G>A (p.Ala190=) rs6678618 0.26138
NM_004431.5(EPHA2):c.2874C>T (p.Ile958=) rs3754334 0.23636
NM_004431.5(EPHA2):c.1738+16C>T rs6669624 0.19542
NM_004431.5(EPHA2):c.1983C>T (p.Leu661=) rs10907223 0.15604
NM_004431.5(EPHA2):c.2034A>G (p.Leu678=) rs2230598 0.03581
NM_004431.5(EPHA2):c.2514A>G (p.Thr838=) rs35586310 0.01913
NM_004431.5(EPHA2):c.1892T>C (p.Met631Thr) rs34021505 0.01910
NM_004431.5(EPHA2):c.2627G>A (p.Arg876His) rs35903225 0.01759
NM_004431.5(EPHA2):c.824-11G>A rs2291804 0.01705
NM_004431.5(EPHA2):c.1171G>A (p.Gly391Arg) rs34192549 0.01659
NM_004431.5(EPHA2):c.2352C>T (p.Thr784=) rs112285834 0.01597
NM_004431.5(EPHA2):c.1941G>T (p.Thr647=) rs56043737 0.01185
NM_004431.5(EPHA2):c.1621G>A (p.Val541Met) rs61731097 0.00776
NM_004431.5(EPHA2):c.648C>T (p.Ala216=) rs34753465 0.00766
NM_004431.5(EPHA2):c.1864+12C>T rs183236745 0.00718
NM_004431.5(EPHA2):c.86-9C>T rs138164293 0.00608
NM_004431.5(EPHA2):c.695A>G (p.Asp232Gly) rs114498261 0.00582
NM_004431.5(EPHA2):c.1896G>A (p.Leu632=) rs55655135 0.00541
NM_004431.5(EPHA2):c.1512G>T (p.Leu504=) rs35676629 0.00491
NM_004431.5(EPHA2):c.2919G>A (p.Gly973=) rs114895977 0.00475
NM_004431.5(EPHA2):c.493G>A (p.Val165Met) rs150790360 0.00444
NM_004431.5(EPHA2):c.1314G>A (p.Glu438=) rs55700006 0.00355
NM_004431.5(EPHA2):c.830C>T (p.Ser277Leu) rs35484156 0.00309
NM_004431.5(EPHA2):c.1048C>A (p.Pro350Thr) rs11543934 0.00292
NM_004431.5(EPHA2):c.1486G>A (p.Asp496Asn) rs115171763 0.00292
NM_004431.5(EPHA2):c.2374C>A (p.Arg792=) rs55869078 0.00255
NM_004431.5(EPHA2):c.507C>T (p.Ser169=) rs139064351 0.00254
NM_004431.5(EPHA2):c.1313-20C>T rs146418694 0.00240
NM_004431.5(EPHA2):c.1170C>T (p.His390=) rs113173342 0.00182
NM_004431.5(EPHA2):c.2904G>C (p.Gln968His) rs138818894 0.00159
NM_004431.5(EPHA2):c.489G>A (p.Leu163=) rs146626026 0.00153
NM_004431.5(EPHA2):c.2097C>T (p.Ala699=) rs149080726 0.00152
NM_004431.5(EPHA2):c.944G>A (p.Arg315Gln) rs139176878 0.00147
NM_004431.5(EPHA2):c.2239G>A (p.Val747Ile) rs145592908 0.00139
NM_004431.5(EPHA2):c.2100G>A (p.Leu700=) rs141594918 0.00103
NM_004431.5(EPHA2):c.1407C>T (p.Tyr469=) rs201532782 0.00083
NM_004431.5(EPHA2):c.2162G>A (p.Arg721Gln) rs116506614 0.00073
NM_004431.5(EPHA2):c.1532C>T (p.Thr511Met) rs55747232 0.00067
NM_004431.5(EPHA2):c.453C>T (p.Thr151=) rs139200871 0.00060
NM_004431.5(EPHA2):c.2579G>A (p.Arg860His) rs139225059 0.00049
NM_004431.5(EPHA2):c.1359C>T (p.Ser453=) rs55740291 0.00039
NM_004431.5(EPHA2):c.2875G>A (p.Ala959Thr) rs139787163 0.00036
NM_004431.5(EPHA2):c.1984G>A (p.Gly662Ser) rs144342633 0.00025
NM_004431.5(EPHA2):c.121C>G (p.Leu41Val) rs147977279 0.00023
NM_004431.5(EPHA2):c.2472C>T (p.His824=) rs145425916 0.00022
NM_004431.5(EPHA2):c.1046C>T (p.Thr349Met) rs200490325 0.00011
NM_004431.5(EPHA2):c.2826C>T (p.Asp942=) rs143828420 0.00011
NM_004431.5(EPHA2):c.1072G>A (p.Glu358Lys) rs201941686 0.00010
NM_004431.5(EPHA2):c.2730C>T (p.Ser910=) rs140726562 0.00010
NM_004431.5(EPHA2):c.1283G>A (p.Arg428His) rs138475231 0.00008
NM_004431.5(EPHA2):c.2682G>A (p.Arg894=) rs747921529 0.00007
NM_004431.5(EPHA2):c.153+15G>A rs753000983 0.00006
NM_004431.5(EPHA2):c.1720G>A (p.Val574Ile) rs201325716 0.00006
NM_004431.5(EPHA2):c.606C>T (p.Pro202=) rs201175373 0.00006
NM_004431.5(EPHA2):c.141G>A (p.Pro47=) rs370213656 0.00004
NM_004431.5(EPHA2):c.1500C>T (p.Asp500=) rs746512965 0.00004
NM_004431.5(EPHA2):c.442G>A (p.Asp148Asn) rs754447639 0.00004
NM_004431.5(EPHA2):c.681C>T (p.Ala227=) rs770700471 0.00004
NM_004431.5(EPHA2):c.1118C>T (p.Ser373Phe) rs758978165 0.00003
NM_004431.5(EPHA2):c.1665C>T (p.Gly555=) rs55660973 0.00003
NM_004431.5(EPHA2):c.1697G>A (p.Arg566His) rs750878968 0.00003
NM_004431.5(EPHA2):c.1734G>A (p.Lys578=) rs1156858324 0.00003
NM_004431.5(EPHA2):c.1843C>T (p.Arg615Trp) rs373953344 0.00003
NM_004431.5(EPHA2):c.2116-6C>T rs765586631 0.00003
NM_004431.5(EPHA2):c.2169C>T (p.Ile723=) rs372191320 0.00003
NM_004431.5(EPHA2):c.390C>T (p.Tyr130=) rs374988801 0.00003
NM_004431.5(EPHA2):c.1429-4A>G rs374403114 0.00002
NM_004431.5(EPHA2):c.1466G>T (p.Gly489Val) rs140392218 0.00002
NM_004431.5(EPHA2):c.844A>G (p.Lys282Glu) rs747087417 0.00002
NM_004431.5(EPHA2):c.1040G>A (p.Arg347His) rs761928478 0.00001
NM_004431.5(EPHA2):c.1062C>T (p.Ser354=) rs781610786 0.00001
NM_004431.5(EPHA2):c.1312+10del rs751606166 0.00001
NM_004431.5(EPHA2):c.1479C>T (p.Thr493=) rs774658304 0.00001
NM_004431.5(EPHA2):c.1950C>T (p.Ala650=) rs370135733 0.00001
NM_004431.5(EPHA2):c.2029C>T (p.Arg677Cys) rs765261745 0.00001
NM_004431.5(EPHA2):c.2116-9C>T rs753038083 0.00001
NM_004431.5(EPHA2):c.2174C>G (p.Ala725Gly) rs2024583180 0.00001
NM_004431.5(EPHA2):c.2326-4G>A rs781762535 0.00001
NM_004431.5(EPHA2):c.524G>A (p.Arg175His) rs759687964 0.00001
NM_004431.5(EPHA2):c.890C>T (p.Thr297Met) rs754323552 0.00001
NC_000001.10:g.(?_16451710)_(16532835_?)del
NC_000001.10:g.(?_16460943)_(16482447_?)dup
NM_004431.5(EPHA2):c.1063G>A (p.Gly355Arg)
NM_004431.5(EPHA2):c.1067G>A (p.Gly356Asp) rs1248366791
NM_004431.5(EPHA2):c.1129G>A (p.Gly377Arg)
NM_004431.5(EPHA2):c.1180C>T (p.Arg394Cys)
NM_004431.5(EPHA2):c.1200C>T (p.Ser400=)
NM_004431.5(EPHA2):c.1210C>G (p.Pro404Ala) rs1181387702
NM_004431.5(EPHA2):c.1428+16G>A
NM_004431.5(EPHA2):c.1428+18G>A
NM_004431.5(EPHA2):c.1453C>A (p.Arg485Ser)
NM_004431.5(EPHA2):c.1456C>T (p.Arg486Cys)
NM_004431.5(EPHA2):c.153+20G>A
NM_004431.5(EPHA2):c.1577C>T (p.Thr526Met)
NM_004431.5(EPHA2):c.1582+1G>A rs1570403798
NM_004431.5(EPHA2):c.1618G>A (p.Gly540Ser)
NM_004431.5(EPHA2):c.1743A>G (p.Gln581=)
NM_004431.5(EPHA2):c.1801G>T (p.Val601Leu)
NM_004431.5(EPHA2):c.1908G>A (p.Ser636=)
NM_004431.5(EPHA2):c.1970G>C (p.Arg657Pro)
NM_004431.5(EPHA2):c.2218C>T (p.Leu740=)
NM_004431.5(EPHA2):c.2235C>T (p.Ile745=) rs2124200644
NM_004431.5(EPHA2):c.2329G>A (p.Gly777Ser) rs922655349
NM_004431.5(EPHA2):c.2374C>T (p.Arg792Trp) rs55869078
NM_004431.5(EPHA2):c.2426_2427dup (p.Val810fs)
NM_004431.5(EPHA2):c.2463G>A (p.Leu821=) rs143247718
NM_004431.5(EPHA2):c.252C>T (p.Asn84=)
NM_004431.5(EPHA2):c.2634T>C (p.Pro878=)
NM_004431.5(EPHA2):c.267A>G (p.Gly89=)
NM_004431.5(EPHA2):c.2694G>A (p.Thr898=)
NM_004431.5(EPHA2):c.2736G>T (p.Trp912Cys) rs903033191
NM_004431.5(EPHA2):c.2743T>C (p.Ser915Pro) rs775490586
NM_004431.5(EPHA2):c.2826-35_2890del
NM_004431.5(EPHA2):c.2826-9G>A rs886041412
NM_004431.5(EPHA2):c.2827G>A (p.Asp943Asn)
NM_004431.5(EPHA2):c.2915_2916del (p.Val972fs) rs2024441691
NM_004431.5(EPHA2):c.410G>A (p.Arg137His)
NM_004431.5(EPHA2):c.438G>A (p.Ala146=)
NM_004431.5(EPHA2):c.697C>T (p.His233Tyr)
NM_004431.5(EPHA2):c.714G>C (p.Pro238=) rs36037949
NM_004431.5(EPHA2):c.759G>A (p.Trp253Ter) rs1569602837
NM_004431.5(EPHA2):c.824-7C>T rs1301165838
NM_004431.5(EPHA2):c.924G>C (p.Glu308Asp) rs759269511
NM_004431.5(EPHA2):c.988dup (p.Ser330fs)

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