ClinVar Miner

List of variants in gene NR2E3 studied for Retinal dystrophy

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_014249.4(NR2E3):c.488T>C (p.Met163Thr) rs1805021 0.02481
NM_014249.4(NR2E3):c.419A>G (p.Glu140Gly) rs1805020 0.02391
NM_014249.4(NR2E3):c.361G>A (p.Glu121Lys) rs146403122 0.00472
NM_014249.4(NR2E3):c.900G>A (p.Thr300=) rs184906734 0.00083
NM_014249.4(NR2E3):c.904G>A (p.Val302Ile) rs1805025 0.00063
NM_014249.4(NR2E3):c.131C>T (p.Ser44Leu) rs202098481 0.00053
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_014249.4(NR2E3):c.966C>T (p.Cys322=) rs148900690 0.00031
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) rs104894493 0.00029
NM_014249.4(NR2E3):c.843C>T (p.Pro281=) rs555211505 0.00009
NM_014249.4(NR2E3):c.859G>A (p.Gly287Ser) rs764901119 0.00008
NM_014249.4(NR2E3):c.410C>T (p.Ser137Phe) rs767828150 0.00006
NM_014249.4(NR2E3):c.481del (p.Thr161fs) rs759339012 0.00006
NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser) rs368098126 0.00006
NM_014249.4(NR2E3):c.1082A>G (p.His361Arg) rs537337423 0.00005
NM_014249.4(NR2E3):c.428C>T (p.Pro143Leu) rs776742417 0.00005
NM_014249.4(NR2E3):c.151G>A (p.Gly51Arg) rs544807110 0.00004
NM_014249.4(NR2E3):c.456G>A (p.Pro152=) rs1192258898 0.00004
NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp) rs104894492 0.00003
NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp) rs772881093 0.00003
NM_014249.4(NR2E3):c.464G>A (p.Arg155His) rs1361341993 0.00003
NM_014249.4(NR2E3):c.290G>A (p.Arg97His) rs1489149705 0.00002
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys) rs527236086 0.00002
NM_014249.4(NR2E3):c.747+8C>T rs372609616 0.00002
NM_014249.4(NR2E3):c.905T>C (p.Val302Ala) rs759031159 0.00002
NM_014249.4(NR2E3):c.118+15G>A rs2054173141 0.00001
NM_014249.4(NR2E3):c.123G>A (p.Val41=) rs555860015 0.00001
NM_014249.4(NR2E3):c.143G>A (p.Arg48His) rs372156526 0.00001
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg) rs121912631 0.00001
NM_014249.4(NR2E3):c.222C>T (p.Ser74=) rs767304567 0.00001
NM_014249.4(NR2E3):c.309C>A (p.Cys103Ter) rs955766374 0.00001
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln) rs766096417 0.00001
NM_014249.4(NR2E3):c.351C>T (p.Ala117=) rs572488420 0.00001
NM_014249.4(NR2E3):c.489G>A (p.Met163Ile) rs534156309 0.00001
NM_014249.4(NR2E3):c.629C>T (p.Ser210Phe) rs2054192019 0.00001
NM_014249.4(NR2E3):c.864T>A (p.Gly288=) rs537802684 0.00001
NM_014249.4(NR2E3):c.1020G>A (p.Glu340=) rs2140291719
NM_014249.4(NR2E3):c.1048C>T (p.Gln350Ter) rs750931603
NM_014249.4(NR2E3):c.1061G>A (p.Ser354Asn)
NM_014249.4(NR2E3):c.1127C>T (p.Pro376Leu) rs527428190
NM_014249.4(NR2E3):c.1172T>A (p.Phe391Tyr)
NM_014249.4(NR2E3):c.1174C>T (p.Arg392Cys)
NM_014249.4(NR2E3):c.119-11C>A rs2054179039
NM_014249.4(NR2E3):c.1199T>A (p.Met400Lys) rs2054237722
NM_014249.4(NR2E3):c.166G>C (p.Gly56Arg) rs121912631
NM_014249.4(NR2E3):c.191G>T (p.Cys64Phe) rs878853395
NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del) rs1555454566
NM_014249.4(NR2E3):c.200G>A (p.Cys67Tyr) rs769900190
NM_014249.4(NR2E3):c.238_240del (p.Ile80del) rs2054181345
NM_014249.4(NR2E3):c.243C>T (p.Tyr81=)
NM_014249.4(NR2E3):c.289C>T (p.Arg97Cys) rs775720634
NM_014249.4(NR2E3):c.406G>T (p.Glu136Ter) rs1257334132
NM_014249.4(NR2E3):c.443C>T (p.Ala148Val)
NM_014249.4(NR2E3):c.572-6C>T rs948094961
NM_014249.4(NR2E3):c.700T>C (p.Trp234Arg) rs2054193051
NM_014249.4(NR2E3):c.748-1G>A rs2054201689
NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu) rs377257254
NM_014249.4(NR2E3):c.882G>A (p.Thr294=) rs1805024
NM_014249.4(NR2E3):c.962C>A (p.Ala321Asp)

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