ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis 1

Included ClinVar conditions (5):
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ClinVar version:
Total variants: 56
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HGVS dbSNP
GUCY2D, 1-BP DEL, 2943G
GUCY2D, 1-BP DEL, 460C
GUCY2D, 1-BP DEL, 693C
NC_000017.11:g.(?_8002902)_(8016550_?)del
NM_000180.3(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665
NM_000180.3(GUCY2D):c.1694T>C (p.Phe565Ser) rs61749755
NM_000180.3(GUCY2D):c.2114-27_2263+18del rs1555635550
NM_000180.3(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168
NM_000180.3(GUCY2D):c.2303G>A (p.Arg768Gln)
NM_000180.3(GUCY2D):c.2377delG (p.Glu793Asnfs) rs1555635668
NM_000180.3(GUCY2D):c.2563C>T (p.Gln855Ter) rs1555635778
NM_000180.3(GUCY2D):c.2766C>G (p.Tyr922Ter)
NM_000180.3(GUCY2D):c.3224+1G>C
NM_000180.3(GUCY2D):c.3233_3236dupACCA (p.His1079Glnfs) rs386834239
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000329.2(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000329.2(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.2(RPE65):c.361dup (p.Ser121Phefs) rs121918844
NM_000350.2(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000440.2(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_001023570.3(IQCB1):c.1036G>T (p.Glu346Ter) rs387907009
NM_001023570.3(IQCB1):c.424_425delTT (p.Phe142Profs) rs750962965
NM_001134831.1(AHI1):c.1912+5G>T rs1554347012
NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile) rs863224884
NM_003322.5(TULP1):c.524dup (p.Pro176Thrfs) rs1327062642
NM_003835.3(RGS9):c.895T>C (p.Trp299Arg) rs121908449
NM_006915.2(RP2):c.102+3A>C rs1556313557
NM_006915.2(RP2):c.486_490del (p.Gly163Lysfs)
NM_014249.3(NR2E3):c.1171_1172del (p.Phe391Profs)
NM_014336.4(AIPL1):c.815G>C (p.Arg272Pro)
NM_014336.4(AIPL1):c.834G>A (p.Trp278Ter) rs62637014
NM_015041.2(CLUAP1):c.817C>T (p.Leu273Phe) rs751218423
NM_018418.4(SPATA7):c.1215G>T (p.Glu405Asp) rs768028061
NM_018418.4(SPATA7):c.19G>A (p.Val7Ile) rs371609982
NM_019098.4(CNGB3):c.1148delC (p.Thr383Ilefs) rs397515360
NM_019098.4(CNGB3):c.819_826delCAGACTCC (p.Arg274Valfs) rs775796581
NM_019098.4(CNGB3):c.991-3T>G rs773372519
NM_020366.3(RPGRIP1):c.1103delA (p.Glu370Asnfs) 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)
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_022787.3(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_025114.3(CEP290):c.1623+5G>A rs1555222073
NM_025114.3(CEP290):c.1910-11T>G rs1555220638
NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.3(CEP290):c.5587-1G>C
NM_033100.4(CDHR1):c.524dup (p.Asn176Glufs)
NM_181714.3(LCA5):c.1676C>A (p.Ser559Ter) rs766143193
NM_181714.3(LCA5):c.838C>T (p.Arg280Ter) rs866395428
NM_201253.2(CRB1):c.2842T>C (p.Cys948Arg) rs62645747

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