ClinVar Miner

List of variants reported as uncertain significance for Leber congenital amaurosis 16

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001103146.3(GIGYF2):c.532+5120A>G rs80042330 0.01324
NM_001103146.3(GIGYF2):c.532+4431G>A rs74547374 0.01144
NM_001103146.3(GIGYF2):c.532+5554G>A rs116740510 0.00415
NM_001103146.3(GIGYF2):c.532+6136G>A rs114432797 0.00320
NM_001103146.3(GIGYF2):c.532+6384A>G rs539079150 0.00129
NM_001103146.3(GIGYF2):c.532+6634T>C rs147795007 0.00096
NM_001103146.3(GIGYF2):c.532+6140G>A rs139337791 0.00053
NM_001103146.3(GIGYF2):c.532+6429T>C rs554909970 0.00027
NM_001103146.3(GIGYF2):c.533-10612T>A rs374864322 0.00027
NM_001103146.3(GIGYF2):c.532+6499C>T rs568320995 0.00022
NM_002242.4(KCNJ13):c.689G>A (p.Ser230Asn) rs146797648 0.00022
NM_001103146.3(GIGYF2):c.532+6653A>C rs886055795 0.00020
NM_002242.4(KCNJ13):c.485G>A (p.Arg162Gln) rs757304681 0.00013
NM_001103146.3(GIGYF2):c.532+6465A>G rs191388517 0.00011
NM_001103146.3(GIGYF2):c.532+4874A>T rs369335960 0.00009
NM_001103146.3(GIGYF2):c.532+4602C>T rs960685260 0.00006
NM_001103146.3(GIGYF2):c.532+5667A>G rs768069588 0.00006
NM_001103146.3(GIGYF2):c.532+4888A>G rs144253492 0.00005
NM_001103146.3(GIGYF2):c.532+5255C>T rs543305193 0.00003
NM_002242.4(KCNJ13):c.242T>C (p.Met81Thr) rs371256707 0.00003
NM_002242.4(KCNJ13):c.474G>A (p.Ala158=) rs769501717 0.00003
NM_001103146.3(GIGYF2):c.532+6288T>G rs562205183 0.00002
NM_001103146.3(GIGYF2):c.532+4951C>T rs886055791 0.00001
NM_001103146.3(GIGYF2):c.532+5798T>C rs886055793 0.00001
NM_001103146.3(GIGYF2):c.532+6661T>G rs570138880 0.00001
NM_001103146.3(GIGYF2):c.533-10648G>A rs755592443 0.00001
NM_002242.4(KCNJ13):c.141C>T (p.Ile47=) rs770352640 0.00001
NM_002242.4(KCNJ13):c.431T>C (p.Leu144Pro) rs1361858388 0.00001
NM_002242.4(KCNJ13):c.548G>A (p.Gly183Asp) rs886055797 0.00001
NM_002242.4(KCNJ13):c.870G>A (p.Pro290=) rs539013622 0.00001
NM_001103146.3(GIGYF2):c.532+4748A>C rs1698955802
NM_001103146.3(GIGYF2):c.532+4997A>T rs886055792
NM_001103146.3(GIGYF2):c.532+4998T>A rs561198746
NM_001103146.3(GIGYF2):c.532+5037A>G rs1698968203
NM_001103146.3(GIGYF2):c.532+5202A>C rs1559414303
NM_001103146.3(GIGYF2):c.532+5560C>A rs1016045931
NM_001103146.3(GIGYF2):c.532+5596A>G rs1000548585
NM_001103146.3(GIGYF2):c.532+5899T>C rs1699015911
NM_001103146.3(GIGYF2):c.532+5971A>G rs1699018564
NM_001103146.3(GIGYF2):c.532+6063A>G rs150909352
NM_001103146.3(GIGYF2):c.532+6135C>T rs983476543
NM_001103146.3(GIGYF2):c.532+6413T>C rs886055794
NM_001103146.3(GIGYF2):c.532+6687A>G rs1048157859
NM_001103146.3(GIGYF2):c.533-10649A>G rs886055798
NM_002242.4(KCNJ13):c.125G>C (p.Arg42Pro) rs1699233151
NM_002242.4(KCNJ13):c.621A>G (p.Val207=) rs886055796

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