ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877 0.00013
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_152443.3(RDH12):c.701G>A (p.Arg234His) rs750636662 0.00010
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter) rs80044281 0.00006
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro) rs527800020 0.00005
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00004
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277 0.00004
NM_020366.4(RPGRIP1):c.1468-2A>G rs751342895 0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745 0.00003
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn) rs61752905 0.00003
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr) rs761231974 0.00003
NM_152443.3(RDH12):c.146C>T (p.Thr49Met) rs28940314 0.00003
NM_152443.3(RDH12):c.698T>A (p.Val233Asp) rs144148976 0.00003
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) rs121917744 0.00002
NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg) rs62636511 0.00002
NM_014336.5(AIPL1):c.421C>T (p.Gln141Ter) rs200125117 0.00002
NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys) rs565837539 0.00002
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782 0.00001
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) rs61752883 0.00001
NM_000329.3(RPE65):c.938A>G (p.His313Arg) rs1375943362 0.00001
NM_000329.3(RPE65):c.95-2A>T rs61751279 0.00001
NM_003322.6(TULP1):c.1199G>A (p.Arg400Gln) rs748972748 0.00001
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter) rs75895925 0.00001
NM_152443.3(RDH12):c.226G>C (p.Gly76Arg) rs368489658 0.00001
NM_152443.3(RDH12):c.377C>T (p.Ala126Val) rs202126574 0.00001
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser) rs1395763356
NM_001122769.3(LCA5):c.1151del (p.Pro384fs) rs386834252
NM_003322.6(TULP1):c.1087G>A (p.Gly363Arg) rs1761067394
NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp) rs387906837
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter) rs201070350
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg) rs62637012
NM_018418.5(SPATA7):c.265_268del (p.Leu89fs) rs777346333
NM_020366.4(RPGRIP1):c.1216del (p.Leu406fs)
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_020366.4(RPGRIP1):c.2465_2468dup (p.Ala824fs) rs745741473
NM_152443.3(RDH12):c.189del (p.Ala64fs)
NM_152443.3(RDH12):c.68+1G>A rs2140138146
NM_152443.3(RDH12):c.784del (p.Ala262fs) rs1594867551
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261

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