ClinVar Miner

List of variants in gene GUCY2D reported as uncertain significance for central areolar choroidal dystrophy

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
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.2318T>C (p.Met773Thr) rs143650826 0.00019
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe) rs61749664 0.00010
NM_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg) rs140638938 0.00006
NM_000180.4(GUCY2D):c.2059C>T (p.His687Tyr) rs751340355 0.00005
NM_000180.4(GUCY2D):c.1566+3G>T rs752607737 0.00002
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn) rs188568530 0.00002
NM_000180.4(GUCY2D):c.2146G>A (p.Asp716Asn) rs755464893 0.00001
NM_000180.4(GUCY2D):c.1214_1216delinsCAA (p.Leu405_Asp406delinsProAsn)
NM_000180.4(GUCY2D):c.131TGC[1] (p.Leu45del) rs2151799258
NM_000180.4(GUCY2D):c.1567-15A>T rs1975776690
NM_000180.4(GUCY2D):c.1789G>A (p.Gly597Arg)
NM_000180.4(GUCY2D):c.1974C>A (p.His658Gln) rs1975872237
NM_000180.4(GUCY2D):c.2798T>C (p.Val933Ala) rs1567961904
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000180.4(GUCY2D):c.40C>G (p.Pro14Ala) rs1975658549
NM_000180.4(GUCY2D):c.49T>C (p.Cys17Arg) rs1008930073

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