ClinVar Miner

List of variants in gene NR2E3 reported as uncertain significance for Retinal dystrophy

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_014249.4(NR2E3):c.131C>T (p.Ser44Leu) rs202098481 0.00053
NM_014249.4(NR2E3):c.859G>A (p.Gly287Ser) rs764901119 0.00008
NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser) rs368098126 0.00006
NM_014249.4(NR2E3):c.428C>T (p.Pro143Leu) rs776742417 0.00005
NM_014249.4(NR2E3):c.456G>A (p.Pro152=) rs1192258898 0.00004
NM_014249.4(NR2E3):c.464G>A (p.Arg155His) rs1361341993 0.00003
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.143G>A (p.Arg48His) rs372156526 0.00001
NM_014249.4(NR2E3):c.629C>T (p.Ser210Phe) rs2054192019 0.00001
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.191G>T (p.Cys64Phe) rs878853395
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.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.962C>A (p.Ala321Asp)

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