ClinVar Miner

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

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 138
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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.307G>A (p.Glu103Lys) rs61749668 0.00004
NM_000180.4(GUCY2D):c.2595del (p.Lys866fs) rs1200134985 0.00003
NM_000180.4(GUCY2D):c.3271C>T (p.Arg1091Ter) rs769818541 0.00002
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter) rs756730335 0.00002
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys) rs61749676 0.00001
NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter) rs748798324 0.00001
NM_000180.4(GUCY2D):c.1566+1G>A rs1348467293 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.2383C>T (p.Arg795Trp) rs765910207 0.00001
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln) rs61750171 0.00001
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter) rs1555635778 0.00001
NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn) rs201587670 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_000180.4(GUCY2D):c.65G>A (p.Trp22Ter) rs1308509257 0.00001
NC_000017.10:g.(?_7906366)_(7911370_?)del
NC_000017.10:g.(?_7906366)_(7912924_?)del
NC_000017.10:g.(?_7919041)_(7919848_?)del
NC_000017.11:g.(?_8002902)_(8016550_?)del
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.-2_3del (p.Met1fs) rs1451359371
NM_000180.4(GUCY2D):c.1008_1014del (p.Asp337fs)
NM_000180.4(GUCY2D):c.1089_1113del (p.Glu363fs)
NM_000180.4(GUCY2D):c.1116G>A (p.Trp372Ter)
NM_000180.4(GUCY2D):c.1116_1119dup (p.Ser374fs)
NM_000180.4(GUCY2D):c.1149_1155del (p.Asp384fs)
NM_000180.4(GUCY2D):c.1150del (p.Asp384fs)
NM_000180.4(GUCY2D):c.1245del (p.Phe415fs) rs1598146173
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter) rs61749679
NM_000180.4(GUCY2D):c.1361_1367del (p.Asn454fs) rs2151800620
NM_000180.4(GUCY2D):c.1371C>A (p.Cys457Ter)
NM_000180.4(GUCY2D):c.1377_1378del (p.Gly460fs)
NM_000180.4(GUCY2D):c.1378+1G>A rs1975751307
NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs) rs1598146589
NM_000180.4(GUCY2D):c.144dup (p.Ala49fs)
NM_000180.4(GUCY2D):c.1530del (p.Thr511fs) rs1975768901
NM_000180.4(GUCY2D):c.1566+2T>C rs61749683
NM_000180.4(GUCY2D):c.1573C>T (p.Gln525Ter) rs1168076308
NM_000180.4(GUCY2D):c.1582C>T (p.Arg528Ter) rs1349155167
NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser) rs61749755
NM_000180.4(GUCY2D):c.16_19del (p.Arg6fs)
NM_000180.4(GUCY2D):c.1753C>T (p.Gln585Ter)
NM_000180.4(GUCY2D):c.175del (p.Leu59fs) rs2151799287
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
NM_000180.4(GUCY2D):c.176_177insCCGGGGT (p.Gly60fs) rs1975665345
NM_000180.4(GUCY2D):c.1773del (p.Asn591fs) rs794727952
NM_000180.4(GUCY2D):c.1780_1783del (p.Leu594fs)
NM_000180.4(GUCY2D):c.1784_1787del (p.Tyr595fs)
NM_000180.4(GUCY2D):c.1806_1830del (p.Ala604fs) rs63749078
NM_000180.4(GUCY2D):c.1821_1824dup (p.Ala609fs)
NM_000180.4(GUCY2D):c.185G>A (p.Trp62Ter)
NM_000180.4(GUCY2D):c.186G>A (p.Trp62Ter)
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.1992T>G (p.His664Gln) rs1598149187
NM_000180.4(GUCY2D):c.1A>G (p.Met1Val) rs1424348888
NM_000180.4(GUCY2D):c.2071del (p.Leu691fs)
NM_000180.4(GUCY2D):c.2080C>T (p.Gln694Ter)
NM_000180.4(GUCY2D):c.2113+1G>A
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.2209C>T (p.Gln737Ter) rs2151802829
NM_000180.4(GUCY2D):c.2260G>T (p.Glu754Ter) rs747951577
NM_000180.4(GUCY2D):c.2263+2T>C rs1975893449
NM_000180.4(GUCY2D):c.226_239del (p.Ala76fs) rs281865410
NM_000180.4(GUCY2D):c.2285del (p.Ser762fs)
NM_000180.4(GUCY2D):c.2291del (p.Pro764fs)
NM_000180.4(GUCY2D):c.2291dup (p.Pro765fs)
NM_000180.4(GUCY2D):c.2323C>T (p.Gln775Ter)
NM_000180.4(GUCY2D):c.2377del (p.Glu793fs) rs1555635668
NM_000180.4(GUCY2D):c.2395_2398dup (p.His800fs) rs1975911430
NM_000180.4(GUCY2D):c.2413-1G>C rs1975923246
NM_000180.4(GUCY2D):c.2476C>T (p.Gln826Ter) rs1338490917
NM_000180.4(GUCY2D):c.2509del (p.Glu837fs)
NM_000180.4(GUCY2D):c.2512C>A (p.Arg838Ser) rs61750172
NM_000180.4(GUCY2D):c.2512C>G (p.Arg838Gly) rs61750172
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.2513G>C (p.Arg838Pro) rs61750173
NM_000180.4(GUCY2D):c.2516del (p.Thr839fs) rs756044745
NM_000180.4(GUCY2D):c.2521G>T (p.Glu841Ter) rs1341592819
NM_000180.4(GUCY2D):c.2538G>C (p.Lys846Asn) rs1598150539
NM_000180.4(GUCY2D):c.2577-2A>C rs1975931968
NM_000180.4(GUCY2D):c.2632C>T (p.Gln878Ter)
NM_000180.4(GUCY2D):c.2646C>G (p.Tyr882Ter) rs1567961697
NM_000180.4(GUCY2D):c.2649del (p.Phe883fs) rs1598150748
NM_000180.4(GUCY2D):c.2678_2679del (p.Ser893fs)
NM_000180.4(GUCY2D):c.2730dup (p.Leu911fs)
NM_000180.4(GUCY2D):c.2735_2736del (p.Leu911_Phe912insTer)
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.2871del (p.Ser958fs) rs2151803659
NM_000180.4(GUCY2D):c.2899del (p.His967fs) rs61750183
NM_000180.4(GUCY2D):c.2943_2944+7del
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000180.4(GUCY2D):c.2952C>A (p.Cys984Ter)
NM_000180.4(GUCY2D):c.2988C>G (p.Tyr996Ter) rs1975957350
NM_000180.4(GUCY2D):c.2997del (p.Phe999fs) rs1975957618
NM_000180.4(GUCY2D):c.2T>A (p.Met1Lys) rs281865408
NM_000180.4(GUCY2D):c.3037G>A (p.Gly1013Arg) rs868612148
NM_000180.4(GUCY2D):c.3038G>A (p.Gly1013Glu) rs1975959442
NM_000180.4(GUCY2D):c.3065T>A (p.Leu1022Ter) rs866511152
NM_000180.4(GUCY2D):c.3074_3075del (p.Val1025fs)
NM_000180.4(GUCY2D):c.3078_3079del (p.Ile1027fs) rs281865411
NM_000180.4(GUCY2D):c.308A>T (p.Glu103Val)
NM_000180.4(GUCY2D):c.3105C>G (p.Tyr1035Ter) rs1975964112
NM_000180.4(GUCY2D):c.3118C>T (p.Arg1040Ter) rs61750194
NM_000180.4(GUCY2D):c.3118_3125delinsAAGGTGAGGTAC (p.Arg1040fs)
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.442del (p.Val148fs)
NM_000180.4(GUCY2D):c.450G>A (p.Trp150Ter)
NM_000180.4(GUCY2D):c.484dup (p.Ala162fs) rs2151799452
NM_000180.4(GUCY2D):c.501del (p.Ala168fs) rs1975675766
NM_000180.4(GUCY2D):c.51C>A (p.Cys17Ter)
NM_000180.4(GUCY2D):c.562_565dup (p.Ala189fs) rs1975678842
NM_000180.4(GUCY2D):c.564del (p.Ala189fs) rs2151799492
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.781_782insT (p.Glu261fs)
NM_000180.4(GUCY2D):c.849C>G (p.Tyr283Ter) rs143745703
NM_000180.4(GUCY2D):c.860del (p.Pro287fs)
NM_000180.4(GUCY2D):c.914del (p.His305fs) rs1598144694
NM_000180.4(GUCY2D):c.91dup (p.Arg31fs) rs61749663
NM_000180.4(GUCY2D):c.926_939del (p.Leu309fs) rs1975693728
NM_000180.4(GUCY2D):c.941dup (p.His314fs)
NM_000180.4(GUCY2D):c.997G>T (p.Glu333Ter) rs755999834
NM_000180.4(GUCY2D):c.[1978C>T];[2960G>C]

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