ClinVar Miner

List of variants in gene NR2E3 reported as likely pathogenic for Retinal dystrophy

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp) rs772881093 0.00003
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln) rs766096417 0.00001
NM_014249.4(NR2E3):c.1199T>A (p.Met400Lys) rs2054237722
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.748-1G>A rs2054201689
NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu) rs377257254

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