ClinVar Miner

List of variants in gene GUCY2D reported as pathogenic for cone-rod dystrophy 6

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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NM_000180.3(GUCY2D):c.1561C>T (p.Arg521Ter)
NM_000180.3(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168
NM_000180.3(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172
NM_000180.3(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.3(GUCY2D):c.2563C>T (p.Gln855Ter) rs1555635778
NM_000180.3(GUCY2D):c.2766C>G (p.Tyr922Ter)
NM_000180.3(GUCY2D):c.2846T>C (p.Ile949Thr) rs267606857
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.3(GUCY2D):c.914del (p.His305Profs)

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