ClinVar Miner

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

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Total variants: 52
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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.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter) rs748798324 0.00001
NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter) rs1290420698 0.00001
NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter) rs61750161 0.00001
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782 0.00001
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000180.4(GUCY2D):c.3224+1G>C rs757823463 0.00001
NM_000180.4(GUCY2D):c.3G>C (p.Met1Ile) rs281865409 0.00001
NM_000180.4(GUCY2D):c.543G>A (p.Trp181Ter) rs1403798841 0.00001
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter) rs61749679
NM_000180.4(GUCY2D):c.1378+1G>A rs1975751307
NM_000180.4(GUCY2D):c.1530del (p.Thr511fs) rs1975768901
NM_000180.4(GUCY2D):c.1566+2T>C rs61749683
NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser) rs61749755
NM_000180.4(GUCY2D):c.176_177insCCGGGGT (p.Gly60fs) rs1975665345
NM_000180.4(GUCY2D):c.1773del (p.Asn591fs) rs794727952
NM_000180.4(GUCY2D):c.1806_1830del (p.Ala604fs) rs63749078
NM_000180.4(GUCY2D):c.1956+2T>A rs61749758
NM_000180.4(GUCY2D):c.1957-1G>T rs61749759
NM_000180.4(GUCY2D):c.1957-2A>G rs945734402
NM_000180.4(GUCY2D):c.1A>G (p.Met1Val) rs1424348888
NM_000180.4(GUCY2D):c.2114-27_2263+18del rs1555635550
NM_000180.4(GUCY2D):c.2177_2206del (p.Ala726_Met736delinsVal) rs1975890613
NM_000180.4(GUCY2D):c.2263+2T>C rs1975893449
NM_000180.4(GUCY2D):c.226_239del (p.Ala76fs) rs281865410
NM_000180.4(GUCY2D):c.2377del (p.Glu793fs) rs1555635668
NM_000180.4(GUCY2D):c.2413-1G>C rs1975923246
NM_000180.4(GUCY2D):c.2512C>G (p.Arg838Gly) rs61750172
NM_000180.4(GUCY2D):c.2521G>T (p.Glu841Ter) rs1341592819
NM_000180.4(GUCY2D):c.2577-2A>C rs1975931968
NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter) rs1006935198
NM_000180.4(GUCY2D):c.2770-1G>C rs1975943461
NM_000180.4(GUCY2D):c.2770-2A>G rs1975943416
NM_000180.4(GUCY2D):c.2899del (p.His967fs) rs61750183
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000180.4(GUCY2D):c.2997del (p.Phe999fs) rs1975957618
NM_000180.4(GUCY2D):c.2T>A (p.Met1Lys) rs281865408
NM_000180.4(GUCY2D):c.3078_3079del (p.Ile1027fs) rs281865411
NM_000180.4(GUCY2D):c.3118C>T (p.Arg1040Ter) rs61750194
NM_000180.4(GUCY2D):c.315C>A (p.Cys105Ter) rs2151799357
NM_000180.4(GUCY2D):c.3219dup (p.Pro1074fs) rs1374426388
NM_000180.4(GUCY2D):c.3233_3236dup (p.His1079fs) rs386834239
NM_000180.4(GUCY2D):c.3G>A (p.Met1Ile) rs281865409
NM_000180.4(GUCY2D):c.501del (p.Ala168fs) rs1975675766
NM_000180.4(GUCY2D):c.562_565dup (p.Ala189fs) rs1975678842
NM_000180.4(GUCY2D):c.571C>T (p.Gln191Ter) rs768390959
NM_000180.4(GUCY2D):c.622del (p.Arg208fs) rs61749671
NM_000180.4(GUCY2D):c.690_693del (p.Lys232fs) rs2151799567
NM_000180.4(GUCY2D):c.91dup (p.Arg31fs) rs61749663
NM_000180.4(GUCY2D):c.997G>T (p.Glu333Ter) rs755999834

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