ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis 9

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00087
NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr) rs138613460 0.00057
NM_022787.4(NMNAT1):c.507G>A (p.Trp169Ter) rs371526758 0.00012
NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly) rs771336246 0.00011
NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp) rs142968179 0.00004
NM_022787.4(NMNAT1):c.634G>A (p.Val212Met) rs201994921 0.00004
NM_022787.4(NMNAT1):c.196C>T (p.Arg66Trp) rs763325435 0.00002
NM_022787.4(NMNAT1):c.205A>G (p.Met69Val) rs372066126 0.00002
NM_022787.4(NMNAT1):c.457C>G (p.Leu153Val) rs387907293 0.00001
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) rs748902766 0.00001
NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys) rs375110174 0.00001
NM_022787.4(NMNAT1):c.716T>C (p.Leu239Ser) rs778606847 0.00001
NM_022787.4(NMNAT1):c.817A>G (p.Asn273Asp) rs387907291 0.00001
NC_000001.10:g.(?_10027411)_(10042759_?)del
NC_000001.10:g.(?_10027411)_(10045246_?)del
NC_000001.10:g.(?_10032132)_(10032266_?)del
NC_000001.10:g.(?_10032132)_(10035853_?)del
NC_000001.10:g.(?_10035630)_(10041248_?)del
NC_000001.10:g.(?_10041069)_(10041248_?)del
NC_000001.10:g.(?_10041069)_(10042759_?)del
NC_000001.11:g.(?_9972074)_(9972188_?)del
NC_000001.11:g.(?_9972074)_(9975775_?)del
NC_000001.11:g.(?_9981011)_(9982721_?)del
NM_022787.4(NMNAT1):c.-69C>T rs1175912276
NM_022787.4(NMNAT1):c.116-2A>G rs1204470176
NM_022787.4(NMNAT1):c.165C>G (p.Tyr55Ter)
NM_022787.4(NMNAT1):c.1A>G (p.Met1Val) rs756649389
NM_022787.4(NMNAT1):c.245T>C (p.Val82Ala) rs986437232
NM_022787.4(NMNAT1):c.254G>A (p.Trp85Ter)
NM_022787.4(NMNAT1):c.255G>A (p.Trp85Ter) rs2101701634
NM_022787.4(NMNAT1):c.25G>A (p.Val9Met) rs387907294
NM_022787.4(NMNAT1):c.271G>A (p.Glu91Lys) rs1271498710
NM_022787.4(NMNAT1):c.282_283del (p.Glu94fs)
NM_022787.4(NMNAT1):c.299+526_*968dup
NM_022787.4(NMNAT1):c.319G>T (p.Glu107Ter) rs1641936336
NM_022787.4(NMNAT1):c.364del (p.Arg122fs) rs1413885352
NM_022787.4(NMNAT1):c.376A>T (p.Lys126Ter) rs1641937559
NM_022787.4(NMNAT1):c.393_394del (p.Glu131fs) rs2101713372
NM_022787.4(NMNAT1):c.439+1G>C rs1641939338
NM_022787.4(NMNAT1):c.451G>T (p.Val151Phe) rs387907292
NM_022787.4(NMNAT1):c.469del (p.Ala157fs) rs1641966566
NM_022787.4(NMNAT1):c.500A>G (p.Asn167Ser) rs1405020783
NM_022787.4(NMNAT1):c.643G>T (p.Glu215Ter) rs1345605596
NM_022787.4(NMNAT1):c.648G>A (p.Trp216Ter)
NM_022787.4(NMNAT1):c.676del (p.Ile226fs) rs763438353
NM_022787.4(NMNAT1):c.710G>T (p.Arg237Leu) rs368062092
NM_022787.4(NMNAT1):c.721C>T (p.Pro241Ser)
NM_022787.4(NMNAT1):c.838T>C (p.Ter280Gln) rs387907290

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