ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis 1

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 157
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HGVS dbSNP
GUCY2D, 1-BP DEL, 2943G
NC_000017.11:g.(?_8002902)_(8016550_?)del
NC_000017.11:g.8015502del
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
NM_000180.4(GUCY2D):c.1530del (p.Thr511fs)
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665
NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter) rs748798324
NM_000180.4(GUCY2D):c.1566+2T>C rs61749683
NM_000180.4(GUCY2D):c.1573C>T (p.Gln525Ter)
NM_000180.4(GUCY2D):c.1582C>T (p.Arg528Ter)
NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter) rs1290420698
NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser) rs61749755
NM_000180.4(GUCY2D):c.176_177insCCGGGGT (p.Gly60fs)
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.1978C>T (p.Arg660Ter) rs61750161
NM_000180.4(GUCY2D):c.1992T>G (p.His664Gln) rs1598149187
NM_000180.4(GUCY2D):c.2114-27_2263+18del rs1555635550
NM_000180.4(GUCY2D):c.2177_2206del (p.Ala726_Met736delinsVal)
NM_000180.4(GUCY2D):c.2263+2T>C
NM_000180.4(GUCY2D):c.226_239del (p.Ala76fs) rs281865410
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782
NM_000180.4(GUCY2D):c.2377del (p.Glu793fs) rs1555635668
NM_000180.4(GUCY2D):c.2395_2398dup (p.His800fs)
NM_000180.4(GUCY2D):c.2413-1G>C
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.2516del (p.Thr839fs)
NM_000180.4(GUCY2D):c.2521G>T (p.Glu841Ter)
NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter) rs1555635778
NM_000180.4(GUCY2D):c.2577-2A>C
NM_000180.4(GUCY2D):c.2595del (p.Lys866fs)
NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter) rs1006935198
NM_000180.4(GUCY2D):c.2770-1G>C
NM_000180.4(GUCY2D):c.2770-2A>G
NM_000180.4(GUCY2D):c.2899del (p.His967fs) rs61750183
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000180.4(GUCY2D):c.2988C>G (p.Tyr996Ter)
NM_000180.4(GUCY2D):c.2997del (p.Phe999fs)
NM_000180.4(GUCY2D):c.2T>A (p.Met1Lys) rs281865408
NM_000180.4(GUCY2D):c.3065T>A (p.Leu1022Ter)
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.3219dup (p.Pro1074fs)
NM_000180.4(GUCY2D):c.3224+1G>C rs757823463
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.3G>C (p.Met1Ile) rs281865409
NM_000180.4(GUCY2D):c.501del (p.Ala168fs)
NM_000180.4(GUCY2D):c.543G>A (p.Trp181Ter)
NM_000180.4(GUCY2D):c.562_565dup (p.Ala189fs)
NM_000180.4(GUCY2D):c.622del (p.Arg208fs) rs61749671
NM_000180.4(GUCY2D):c.65G>A (p.Trp22Ter)
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)
NM_000180.4(GUCY2D):c.997G>T (p.Glu333Ter)
NM_000283.3(PDE6B):c.886G>T (p.Glu296Ter) rs1064797304
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586
NM_000329.3(RPE65):c.1451G>T (p.Gly484Val)
NM_000329.3(RPE65):c.227A>C (p.His76Pro) rs1571172233
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871
NM_000329.3(RPE65):c.361dup (p.Ser121fs) rs121918844
NM_000329.3(RPE65):c.95-2A>T rs61751279
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000440.3(PDE6A):c.2027+5G>T rs794727166
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer) rs1599991611
NM_000843.3(GRM6):c.(1354+1_1355-1)_(2436+1_2437-1)del
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter) rs62638214
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter) rs387907009
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001023570.4(IQCB1):c.812del (p.Ser271fs)
NM_001122769.3(LCA5):c.1171A>T (p.Lys391Ter) rs765473119
NM_001122769.3(LCA5):c.1676C>A (p.Ser559Ter) rs766143193
NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter) rs781035395
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) rs866395428
NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr) rs1178243254
NM_001134831.2(AHI1):c.1912+5G>T rs1554347012
NM_001312673.2(PCYT1A):c.471C>G (p.Phe157Leu) rs1577358031
NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile) rs863224884
NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter) rs1581736099
NM_003322.6(TULP1):c.1388del (p.Asn463fs) rs1581736024
NM_003322.6(TULP1):c.1495+2dup rs1581735836
NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter) rs773968778
NM_003322.6(TULP1):c.524dup (p.Pro176fs) rs1327062642
NM_003322.6(TULP1):c.528_529insT (p.Lys177Ter) rs1581743256
NM_003322.6(TULP1):c.781_782insCTCC (p.Lys261fs) rs1581742633
NM_003322.6(TULP1):c.832_833insTCCC (p.Glu278fs) rs1581740762
NM_003835.4(RGS9):c.895T>C (p.Trp299Arg) rs121908449
NM_004928.3(CFAP410):c.643-2A>G rs1602071524
NM_006017.3(PROM1):c.139del (p.His47fs) rs747512450
NM_006017.3(PROM1):c.1877_1878del (p.Ile626fs) rs1300041533
NM_006915.3(RP2):c.102+3A>C rs1556313557
NM_006915.3(RP2):c.486_490del (p.Gly163fs) rs1569531639
NM_014249.4(NR2E3):c.1171_1172del (p.Phe391fs) rs574936510
NM_014336.5(AIPL1):c.211G>T (p.Val71Phe) rs775364986
NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter) rs1468041544
NM_014336.5(AIPL1):c.238C>T (p.Arg80Trp) rs748210823
NM_014336.5(AIPL1):c.34dup (p.Val12fs)
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro) rs1284009768
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014
NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe) rs751218423
NM_018418.5(SPATA7):c.1215G>T (p.Glu405Asp) rs768028061
NM_018418.5(SPATA7):c.19G>A (p.Val7Ile) rs371609982
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_019098.4(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.4(CNGB3):c.991-3T>G rs773372519
NM_020366.3(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.3(RPGRIP1):c.1611G>A (p.Gln537=) rs1064797181
NM_020366.3(RPGRIP1):c.194G>A (p.Trp65Ter) rs137853124
NM_020366.3(RPGRIP1):c.2368-2A>G rs1064797182
NM_020366.3(RPGRIP1):c.2440C>T (p.Arg814Ter) rs759940113
NM_020366.3(RPGRIP1):c.2759_2760insT (p.Gln920fs) rs61751270
NM_020366.3(RPGRIP1):c.2775G>A (p.Trp925Ter) rs398124354
NM_020366.3(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020366.3(RPGRIP1):c.3339+5G>A rs1057518122
NM_020366.3(RPGRIP1):c.564A>G (p.Glu188=) rs574462207
NM_020366.3(RPGRIP1):c.800+1G>A rs376500610
NM_022787.4(NMNAT1):c.629T>C (p.Ile210Thr)
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_025114.4(CEP290):c.102+1G>T
NM_025114.4(CEP290):c.1623+5G>A rs1555222073
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1910-11T>G rs1555220638
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter) rs62640574
NM_025114.4(CEP290):c.5587-1G>C rs968692633
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter) rs1592784618
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter) rs886042360
NM_033100.4(CDHR1):c.524dup (p.Asn176fs) rs781781440
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs) rs1571523319
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) rs114342808
NM_201253.3(CRB1):c.2133T>A (p.Tyr711Ter)
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs) rs745348555
NM_201253.3(CRB1):c.2680_2684del (p.Asn894fs) rs1571544281
NM_201253.3(CRB1):c.2809G>C (p.Ala937Pro)
NM_201253.3(CRB1):c.281_282del (p.Phe94fs) rs1571848166
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) rs62645747
NM_201253.3(CRB1):c.3086T>A (p.Val1029Glu) rs1064797128
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275
NM_201253.3(CRB1):c.3460_3461TG[1] (p.Cys1154_Glu1155delinsTer) rs1571557864
NM_201253.3(CRB1):c.4005+1G>A rs890453675
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs) rs281865175
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter) rs1571878277

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