ClinVar Miner

List of variants in gene NR2E3 reported as benign for eye degenerative disorder

Included ClinVar conditions (119):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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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.1095C>T (p.Pro365=) rs35004053 0.01800
NM_014249.4(NR2E3):c.505C>T (p.Leu169=) rs1805022 0.01351
NM_014249.4(NR2E3):c.694G>A (p.Val232Ile) rs1805023 0.00690
NM_014249.4(NR2E3):c.361G>A (p.Glu121Lys) rs146403122 0.00472
NM_014249.4(NR2E3):c.245+8C>T rs9920371 0.00409
NM_014249.4(NR2E3):c.1005C>A (p.Gly335=) rs142621527 0.00379
NM_014249.4(NR2E3):c.349+8G>A rs112520386 0.00344
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.966C>T (p.Cys322=) rs148900690 0.00031
NM_014249.4(NR2E3):c.864T>A (p.Gly288=) rs537802684 0.00001
NM_014249.4(NR2E3):c.195C>T (p.Asn65=) rs367603365
NM_014249.4(NR2E3):c.76A>C (p.Lys26Gln) rs373237215
NM_014249.4(NR2E3):c.951del (p.Thr318fs) rs11351249

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