ClinVar Miner

List of variants in gene EPHA2 reported as uncertain significance for cataract

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_004431.5(EPHA2):c.2162G>A (p.Arg721Gln) rs116506614 0.00073
NM_004431.5(EPHA2):c.*284C>T rs537231128 0.00053
NM_004431.5(EPHA2):c.1984G>A (p.Gly662Ser) rs144342633 0.00025
NM_004431.5(EPHA2):c.*845G>A rs181703453 0.00018
NM_004431.5(EPHA2):c.1712C>T (p.Pro571Leu) rs376402047 0.00012
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.1283G>A (p.Arg428His) rs138475231 0.00008
NM_004431.5(EPHA2):c.1252G>A (p.Val418Ile) rs568736295 0.00006
NM_004431.5(EPHA2):c.1720G>A (p.Val574Ile) rs201325716 0.00006
NM_004431.5(EPHA2):c.*625G>A rs886045502 0.00005
NM_004431.5(EPHA2):c.442G>A (p.Asp148Asn) rs754447639 0.00004
NM_004431.5(EPHA2):c.600G>C (p.Lys200Asn) rs200541087 0.00004
NM_004431.5(EPHA2):c.*790C>T rs371642899 0.00003
NM_004431.5(EPHA2):c.1118C>T (p.Ser373Phe) rs758978165 0.00003
NM_004431.5(EPHA2):c.1697G>A (p.Arg566His) rs750878968 0.00003
NM_004431.5(EPHA2):c.1843C>T (p.Arg615Trp) rs373953344 0.00003
NM_004431.5(EPHA2):c.2397C>T (p.Asp799=) rs199875761 0.00003
NM_004431.5(EPHA2):c.2697C>T (p.Ser899=) rs749180343 0.00003
NM_004431.5(EPHA2):c.*624C>T rs886045503 0.00002
NM_004431.5(EPHA2):c.1421G>A (p.Arg474His) rs988452109 0.00002
NM_004431.5(EPHA2):c.303T>C (p.Thr101=) rs779193586 0.00002
NM_004431.5(EPHA2):c.844A>G (p.Lys282Glu) rs747087417 0.00002
NM_004431.5(EPHA2):c.962C>T (p.Ala321Val) rs372094298 0.00002
NM_004431.5(EPHA2):c.*273G>A rs1208362952 0.00001
NM_004431.5(EPHA2):c.1040G>A (p.Arg347His) rs761928478 0.00001
NM_004431.5(EPHA2):c.115G>A (p.Gly39Arg) rs1253625963 0.00001
NM_004431.5(EPHA2):c.1572C>T (p.Phe524=) rs763210348 0.00001
NM_004431.5(EPHA2):c.1586C>T (p.Pro529Leu) rs548968171 0.00001
NM_004431.5(EPHA2):c.2029C>T (p.Arg677Cys) rs765261745 0.00001
NM_004431.5(EPHA2):c.2174C>G (p.Ala725Gly) rs2024583180 0.00001
NM_004431.5(EPHA2):c.441C>T (p.Pro147=) rs778278534 0.00001
NM_004431.5(EPHA2):c.524G>A (p.Arg175His) rs759687964 0.00001
NM_004431.5(EPHA2):c.583C>T (p.Arg195Cys) rs368758045 0.00001
NM_004431.5(EPHA2):c.890C>T (p.Thr297Met) rs754323552 0.00001
NC_000001.10:g.(?_16460943)_(16482447_?)dup
NM_004431.5(EPHA2):c.*224G>T rs886045504
NM_004431.5(EPHA2):c.*543C>T rs2024433310
NM_004431.5(EPHA2):c.-81G>T rs748513356
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.124G>A (p.Gly42Ser) rs886045506
NM_004431.5(EPHA2):c.1364C>T (p.Ser455Phe) rs993473436
NM_004431.5(EPHA2):c.1405T>C (p.Tyr469His)
NM_004431.5(EPHA2):c.1453C>A (p.Arg485Ser)
NM_004431.5(EPHA2):c.1456C>T (p.Arg486Cys)
NM_004431.5(EPHA2):c.1577C>T (p.Thr526Met)
NM_004431.5(EPHA2):c.1583C>G (p.Ser528Cys) rs1380993138
NM_004431.5(EPHA2):c.1618G>A (p.Gly540Ser)
NM_004431.5(EPHA2):c.1701C>T (p.Ala567=) rs2024630377
NM_004431.5(EPHA2):c.1743A>G (p.Gln581=)
NM_004431.5(EPHA2):c.1801G>T (p.Val601Leu)
NM_004431.5(EPHA2):c.1886A>G (p.Lys629Arg)
NM_004431.5(EPHA2):c.1970G>C (p.Arg657Pro)
NM_004431.5(EPHA2):c.205G>A (p.Val69Met) rs994302854
NM_004431.5(EPHA2):c.2145G>T (p.Gln715His)
NM_004431.5(EPHA2):c.2328C>A (p.Gly776=) rs757876769
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.2476G>T (p.Val826Leu)
NM_004431.5(EPHA2):c.262C>T (p.Arg88Ter) rs143590250
NM_004431.5(EPHA2):c.2677_2680dup (p.Arg894fs)
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.2827G>A (p.Asp943Asn)
NM_004431.5(EPHA2):c.2864A>C (p.Gln955Pro)
NM_004431.5(EPHA2):c.2872A>G (p.Ile958Val)
NM_004431.5(EPHA2):c.410G>A (p.Arg137His)
NM_004431.5(EPHA2):c.508G>A (p.Val170Met)
NM_004431.5(EPHA2):c.697C>T (p.His233Tyr)
NM_004431.5(EPHA2):c.77G>T (p.Gly26Val) rs1557520529
NM_004431.5(EPHA2):c.924G>C (p.Glu308Asp) rs759269511

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