ClinVar Miner

List of variants reported as likely pathogenic for cone-rod dystrophy 6

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000180.4(GUCY2D):c.935C>T (p.Thr312Met) rs61749673 0.00003
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter) rs756730335 0.00002
NM_000180.4(GUCY2D):c.1026+2T>C
NM_000180.4(GUCY2D):c.1567-1G>C rs2151801050
NM_000180.4(GUCY2D):c.1749+1G>A rs2151801563
NM_000180.4(GUCY2D):c.1750-12_1752del
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
NM_000180.4(GUCY2D):c.1972C>T (p.His658Tyr) rs1598149154
NM_000180.4(GUCY2D):c.2263+1G>A
NM_000180.4(GUCY2D):c.2264-1G>A
NM_000180.4(GUCY2D):c.2412+2T>C rs2151803131
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.2516C>G (p.Thr839Arg) rs61750174
NM_000180.4(GUCY2D):c.2545A>G (p.Thr849Ala) rs2151803362
NM_000180.4(GUCY2D):c.2576+1G>A
NM_000180.4(GUCY2D):c.2577-2A>G
NM_000180.4(GUCY2D):c.2769+1G>A
NM_000180.4(GUCY2D):c.2770-34_2925del
NM_000180.4(GUCY2D):c.2837C>A (p.Ala946Glu) rs61750180
NM_000180.4(GUCY2D):c.3020C>T (p.Ser1007Leu)

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