ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis by Sharon lab,Hadassah-Hebrew University Medical Center

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Total variants: 29
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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_000329.3(RPE65):c.227A>C (p.His76Pro)
NM_000329.3(RPE65):c.95-2A>T rs61751279
NM_001122769.3(LCA5):c.1171A>T (p.Lys391Ter)
NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter)
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165
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_004928.3(CFAP410):c.643-2A>G
NM_014336.5(AIPL1):c.211G>T (p.Val71Phe)
NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter)
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_025114.3(CEP290):c.1666delA (p.Ile556Phefs) rs727503855
NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.3(CEP290):c.4771C>T (p.Gln1591Ter) rs62640574
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)
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.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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