List of variants in gene GUCY2D reported as uncertain significance for Leber congenital amaurosis 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000180.4(GUCY2D):c.2804C>T (p.Ser935Leu)	rs1236572248	0.00001
NM_000180.4(GUCY2D):c.1220C>A (p.Thr407Lys)	rs377650196
NM_000180.4(GUCY2D):c.1220C>G (p.Thr407Arg)	rs377650196
NM_000180.4(GUCY2D):c.2836G>C (p.Ala946Pro)
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu)	rs61750184
NM_000180.4(GUCY2D):c.2965G>C (p.Val989Leu)	rs1248867031
NM_000180.4(GUCY2D):c.2978del (p.Met993fs)	rs1598151437
NM_000180.4(GUCY2D):c.596G>C (p.Arg199Pro)	rs1370721862

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