ClinVar Miner

List of variants studied for Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i by Fulgent Genetics, Fulgent Genetics

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu) rs28743021 0.01496
NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=) rs55916957 0.00340
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) rs138836357 0.00069
NM_000180.4(GUCY2D):c.1081G>A (p.Val361Met) rs186508466 0.00057
NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser) rs146820642 0.00053
NM_000180.4(GUCY2D):c.1984G>A (p.Val662Met) rs143585840 0.00021
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000180.4(GUCY2D):c.2318T>C (p.Met773Thr) rs143650826 0.00019
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe) rs61749664 0.00010
NM_000180.4(GUCY2D):c.2059C>T (p.His687Tyr) rs751340355 0.00005
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00004
NM_000180.4(GUCY2D):c.2595del (p.Lys866fs) rs1200134985 0.00003
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn) rs188568530 0.00002
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter) rs756730335 0.00002
NM_000180.4(GUCY2D):c.2146G>A (p.Asp716Asn) rs755464893 0.00001
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782 0.00001
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln) rs61750171 0.00001
NM_000180.4(GUCY2D):c.3224+1G>C rs757823463 0.00001
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.1341dup (p.Ser448fs)
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter) rs61749679
NM_000180.4(GUCY2D):c.1378+1G>T
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
NM_000180.4(GUCY2D):c.1956+1G>A
NM_000180.4(GUCY2D):c.2260G>T (p.Glu754Ter) rs747951577
NM_000180.4(GUCY2D):c.2291del (p.Pro764fs)
NM_000180.4(GUCY2D):c.2476C>T (p.Gln826Ter) rs1338490917
NM_000180.4(GUCY2D):c.2515_2522del (p.Thr839fs)
NM_000180.4(GUCY2D):c.2646C>G (p.Tyr882Ter) rs1567961697
NM_000180.4(GUCY2D):c.3127del (p.Thr1043fs)
NM_000180.4(GUCY2D):c.49T>C (p.Cys17Arg) rs1008930073
NM_000180.4(GUCY2D):c.856_876dup (p.Ser286_Leu292dup) rs2151799690

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