ClinVar Miner

List of variants reported as benign for cataract 6 multiple types by Invitae

Included ClinVar conditions (1):
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Total variants: 46
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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.489G>A (p.Leu163=) rs146626026 0.00153
NM_004431.5(EPHA2):c.2097C>T (p.Ala699=) rs149080726 0.00152
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.1532C>T (p.Thr511Met) rs55747232 0.00067
NM_004431.5(EPHA2):c.453C>T (p.Thr151=) rs139200871 0.00060
NM_004431.5(EPHA2):c.1359C>T (p.Ser453=) rs55740291 0.00039
NM_004431.5(EPHA2):c.121C>G (p.Leu41Val) rs147977279 0.00023
NM_004431.5(EPHA2):c.2730C>T (p.Ser910=) rs140726562 0.00010
NM_004431.5(EPHA2):c.1665C>T (p.Gly555=) rs55660973 0.00003
NM_004431.5(EPHA2):c.1429-4A>G rs374403114 0.00002
NM_004431.5(EPHA2):c.1479C>T (p.Thr493=) rs774658304 0.00001
NM_004431.5(EPHA2):c.1428+16G>A
NM_004431.5(EPHA2):c.2463G>A (p.Leu821=) rs143247718
NM_004431.5(EPHA2):c.714G>C (p.Pro238=) rs36037949

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