ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis

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Total variants: 67
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HGVS dbSNP
NM_000180.3(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782
NM_000180.4(GUCY2D):c.1992T>G (p.His664Gln)
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.227A>C (p.His76Pro)
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_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_001122769.3(LCA5):c.1171A>T (p.Lys391Ter)
NM_001122769.3(LCA5):c.1676C>A (p.Ser559Ter) rs766143193
NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter)
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) rs866395428
NM_001134831.2(AHI1):c.1912+5G>T rs1554347012
NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile) rs863224884
NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter)
NM_003322.6(TULP1):c.1495+2dup
NM_003322.6(TULP1):c.528_529insT (p.Lys177Ter)
NM_003322.6(TULP1):c.781_782insCTCC (p.Lys261fs)
NM_003322.6(TULP1):c.832_833insTCCC (p.Glu278fs)
NM_003835.4(RGS9):c.895T>C (p.Trp299Arg) rs121908449
NM_004928.3(CFAP410):c.643-2A>G
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)
NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter)
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro)
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.2440C>T (p.Arg814Ter) rs759940113
NM_020366.3(RPGRIP1):c.2775G>A (p.Trp925Ter) rs398124354
NM_020366.3(RPGRIP1):c.3339+5G>A rs1057518122
NM_020366.3(RPGRIP1):c.564A>G (p.Glu188=) rs574462207
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_025114.3(CEP290):c.1623+5G>A rs1555222073
NM_025114.3(CEP290):c.1666delA (p.Ile556Phefs) rs727503855
NM_025114.3(CEP290):c.1910-11T>G rs1555220638
NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.3(CEP290):c.4771C>T (p.Gln1591Ter) rs62640574
NM_025114.3(CEP290):c.5587-1G>C
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)
NM_033100.4(CDHR1):c.524dup (p.Asn176fs) rs781781440
NM_152443.3(RDH12):c.164C>T (p.Thr55Met)
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) rs114342808
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_201253.3(CRB1):c.2680_2684del (p.Asn894fs)
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) rs62645747
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275
NM_201253.3(CRB1):c.4005+1G>A
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs) rs281865175

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