ClinVar Miner

List of variants in gene CNGB3 studied for Leber congenital amaurosis

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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NM_019098.4(CNGB3):c.1148delC (p.Thr383Ilefs) rs397515360
NM_019098.4(CNGB3):c.819_826delCAGACTCC (p.Arg274Valfs) rs775796581
NM_019098.4(CNGB3):c.991-3T>G rs773372519

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