ClinVar Miner

List of variants in gene GUCY2D reported as uncertain significance for Leber congenital amaurosis

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000180.3(GUCY2D):c.2598G>C (p.Lys866Asn) rs201587670
NM_000180.3(GUCY2D):c.2618C>G (p.Pro873Arg) rs1567961680
NM_000180.3(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000180.3(GUCY2D):c.696G>T (p.Lys232Asn) rs181800610
NM_000180.3:c.2431G>A
NM_000180.3:c.752T>C

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