ClinVar Miner

Variants in gene NR2E3 with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_014249.4(NR2E3):c.1025T>C (p.Val342Ala) rs757665544 0.00004
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys) rs527236086 0.00002
NM_014249.4(NR2E3):c.1007T>C (p.Leu336Pro) rs752883545 0.00001
NM_014249.4(NR2E3):c.931C>T (p.Arg311Trp) rs767442358 0.00001
NM_014249.4(NR2E3):c.223G>T (p.Val75Leu) rs750284532
NM_014249.4(NR2E3):c.289C>T (p.Arg97Cys) rs775720634
NM_014249.4(NR2E3):c.767C>T (p.Ala256Val) rs377257254

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