ClinVar Miner

List of variants in gene NR2E3 studied for Retinitis Pigmentosa, Recessive

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_014249.4(NR2E3):c.*566A>C rs76978830 0.02652
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.505C>T (p.Leu169=) rs1805022 0.01351
NM_014249.4(NR2E3):c.*558C>A rs886051459 0.00506
NM_014249.4(NR2E3):c.349+8G>A rs112520386 0.00344
NM_014249.4(NR2E3):c.*231A>G rs185349250 0.00125
NM_014249.4(NR2E3):c.900G>A (p.Thr300=) rs184906734 0.00083
NM_014249.4(NR2E3):c.455C>T (p.Pro152Leu) rs371853056 0.00053
NM_014249.4(NR2E3):c.119-8C>T rs373874970 0.00006
NM_014249.4(NR2E3):c.410C>T (p.Ser137Phe) rs767828150 0.00006
NM_014249.4(NR2E3):c.444T>C (p.Ala148=) rs533192044 0.00004
NM_014249.4(NR2E3):c.*453G>T rs886051457 0.00003
NM_014249.4(NR2E3):c.245+9G>A rs538864090 0.00003
NM_014249.4(NR2E3):c.666G>C (p.Glu222Asp) rs759765652 0.00003
NM_014249.4(NR2E3):c.264G>T (p.Gly88=) rs558123422 0.00002
NM_014249.4(NR2E3):c.572-13C>T rs376114936 0.00002
NM_014249.4(NR2E3):c.*101T>C rs886051453 0.00001
NM_014249.4(NR2E3):c.*275A>C rs886051455 0.00001
NM_014249.4(NR2E3):c.332C>T (p.Ala111Val) rs759381786 0.00001
NM_014249.4(NR2E3):c.571G>A (p.Ala191Thr) rs779518180 0.00001
NM_014249.4(NR2E3):c.*144A>T rs886051454
NM_014249.4(NR2E3):c.*197T>G rs779157022
NM_014249.4(NR2E3):c.*340G>C rs886051456
NM_014249.4(NR2E3):c.*554A>C rs886051458
NM_014249.4(NR2E3):c.*563_*566del rs531918877
NM_014249.4(NR2E3):c.-139G>A rs138513681
NM_014249.4(NR2E3):c.-139G>T rs138513681
NM_014249.4(NR2E3):c.-47C>T rs886051449
NM_014249.4(NR2E3):c.222C>G (p.Ser74Arg) rs767304567
NM_014249.4(NR2E3):c.321G>A (p.Lys107=) rs886051450
NM_014249.4(NR2E3):c.349+12dup rs886051451
NM_014249.4(NR2E3):c.402C>A (p.Ser134Arg) rs886051452
NM_014249.4(NR2E3):c.838C>G (p.Pro280Ala) rs769154628

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