ClinVar Miner

List of variants studied for Leber congenital amaurosis by Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909 0.00001
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu) rs752058510 0.00001
NM_006017.3(PROM1):c.1984-1G>T rs373680665 0.00001
NM_020366.4(RPGRIP1):c.2895+1G>T rs748072501 0.00001
NM_025114.4(CEP290):c.4705-1G>T rs777464278 0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337 0.00001
NM_000180.4(GUCY2D):c.740A>G (p.His247Arg) rs768206746
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_001122769.3(LCA5):c.744_750del (p.Ser249fs) rs1769904494
NM_006017.3(PROM1):c.784+1G>A rs745704627
NM_018418.5(SPATA7):c.283C>T (p.Gln95Ter)
NM_018418.5(SPATA7):c.699_700del (p.Phe233_Ser234insTer) rs567890014
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.2T>C (p.Met1Thr)
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp) rs761167763
NM_201253.3(CRB1):c.3626_3627del (p.Val1209fs)

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