ClinVar Miner

List of variants reported as likely pathogenic for Leber congenital amaurosis 8

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Total variants: 138
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HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg) rs62636264 0.00007
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe) rs764256655 0.00006
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_201253.3(CRB1):c.2252T>A (p.Leu751Ter) rs1409490389 0.00003
NM_201253.3(CRB1):c.2291G>A (p.Arg764His) rs375040930 0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_201253.3(CRB1):c.4168C>T (p.Arg1390Ter) rs763324776 0.00003
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val) rs145282040 0.00002
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro) rs769909288 0.00001
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys) rs1271816211 0.00001
NM_201253.3(CRB1):c.2105A>G (p.Tyr702Cys) rs1180527322 0.00001
NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys) rs765676754 0.00001
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro) rs1451348539 0.00001
NM_201253.3(CRB1):c.2842+5G>A rs773914330 0.00001
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro) rs62636276 0.00001
NM_201253.3(CRB1):c.3686G>C (p.Cys1229Ser) rs1031415706 0.00001
NM_201253.3(CRB1):c.3958C>T (p.Gln1320Ter) rs1246546027 0.00001
NM_201253.3(CRB1):c.407G>A (p.Cys136Tyr) rs752559648 0.00001
NM_201253.3(CRB1):c.547T>C (p.Cys183Arg) rs1658691162 0.00001
NM_201253.3(CRB1):c.997G>C (p.Gly333Arg) rs778232235 0.00001
NM_201253.3(CRB1):c.1003C>T (p.Gln335Ter)
NM_201253.3(CRB1):c.1043G>A (p.Cys348Tyr) rs886039871
NM_201253.3(CRB1):c.1078G>T (p.Glu360Ter)
NM_201253.3(CRB1):c.112del (p.Ser38fs) rs62645750
NM_201253.3(CRB1):c.1136C>G (p.Ser379Ter) rs1660516364
NM_201253.3(CRB1):c.1147T>C (p.Cys383Arg) rs1571897130
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.1219C>T (p.Gln407Ter)
NM_201253.3(CRB1):c.1268del (p.Cys423fs)
NM_201253.3(CRB1):c.1275del (p.Phe425fs)
NM_201253.3(CRB1):c.132dup (p.Cys45fs) rs2125303667
NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg) rs1664290387
NM_201253.3(CRB1):c.1405T>G (p.Cys469Gly)
NM_201253.3(CRB1):c.1426del (p.Thr476fs)
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg) rs866822473
NM_201253.3(CRB1):c.1436T>C (p.Leu479Pro) rs963201816
NM_201253.3(CRB1):c.1445_1453del (p.Ile482_Thr484del) rs780580887
NM_201253.3(CRB1):c.1499C>G (p.Ser500Ter)
NM_201253.3(CRB1):c.1633delinsAA (p.Ser545fs)
NM_201253.3(CRB1):c.1651C>T (p.Gln551Ter) rs768107603
NM_201253.3(CRB1):c.1665dup (p.Leu556fs)
NM_201253.3(CRB1):c.1743_1755dup (p.Ser586fs) rs751935649
NM_201253.3(CRB1):c.1750G>T (p.Asp584Tyr) rs1664322968
NM_201253.3(CRB1):c.1760G>A (p.Cys587Tyr) rs1471328495
NM_201253.3(CRB1):c.1831del (p.Ser611fs) rs2125471098
NM_201253.3(CRB1):c.1844G>T (p.Gly615Val) rs768905244
NM_201253.3(CRB1):c.1901del (p.Pro634fs)
NM_201253.3(CRB1):c.2035C>T (p.Gln679Ter)
NM_201253.3(CRB1):c.2096_2100dup (p.Pro701fs)
NM_201253.3(CRB1):c.2128G>C (p.Glu710Gln) rs62645755
NM_201253.3(CRB1):c.2219C>T (p.Ser740Phe) rs1664649015
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr) rs62636267
NM_201253.3(CRB1):c.2227G>C (p.Val743Leu) rs863224862
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_201253.3(CRB1):c.2234C>A (p.Thr745Lys) rs28939720
NM_201253.3(CRB1):c.2234C>G (p.Thr745Arg) rs28939720
NM_201253.3(CRB1):c.2245_2247del (p.Ser749del) rs62635653
NM_201253.3(CRB1):c.2246C>G (p.Ser749Ter)
NM_201253.3(CRB1):c.2249G>T (p.Gly750Val) rs2125483925
NM_201253.3(CRB1):c.2365_2367del (p.Asn789del) rs1433518605
NM_201253.3(CRB1):c.2389T>C (p.Ser797Pro) rs1355198242
NM_201253.3(CRB1):c.2420T>C (p.Leu807Pro) rs1664667136
NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg) rs1664671663
NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp) rs1085307972
NM_201253.3(CRB1):c.2540T>C (p.Phe847Ser) rs758723407
NM_201253.3(CRB1):c.2549G>C (p.Gly850Ala) rs757137398
NM_201253.3(CRB1):c.2549_2552del (p.Gly850fs) rs62636270
NM_201253.3(CRB1):c.2570_2574del (p.Leu857fs)
NM_201253.3(CRB1):c.2585T>G (p.Leu862Arg) rs1664680011
NM_201253.3(CRB1):c.2638A>G (p.Asn880Asp) rs1664683759
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser) rs910489135
NM_201253.3(CRB1):c.2673C>A (p.Cys891Ter) rs759662695
NM_201253.3(CRB1):c.2676+1G>A
NM_201253.3(CRB1):c.2677-1G>T
NM_201253.3(CRB1):c.2687G>C (p.Cys896Ser) rs1571544334
NM_201253.3(CRB1):c.2704del (p.Cys902fs)
NM_201253.3(CRB1):c.2718G>A (p.Trp906Ter) rs2125488868
NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr) rs863223341
NM_201253.3(CRB1):c.2785_2787delinsTG (p.Gly929fs)
NM_201253.3(CRB1):c.2806G>T (p.Gly936Ter)
NM_201253.3(CRB1):c.2832del (p.Gly945fs)
NM_201253.3(CRB1):c.2843-1G>T rs878853368
NM_201253.3(CRB1):c.291del (p.Lys97fs) rs2125303994
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val) rs369184026
NM_201253.3(CRB1):c.3074G>A (p.Ser1025Asn) rs62636274
NM_201253.3(CRB1):c.3074G>T (p.Ser1025Ile) rs62636274
NM_201253.3(CRB1):c.3143_3154delinsA (p.Thr1048fs) rs1665066272
NM_201253.3(CRB1):c.3157A>G (p.Met1053Val)
NM_201253.3(CRB1):c.3164T>A (p.Val1055Glu) rs1665071224
NM_201253.3(CRB1):c.3194del (p.Thr1065fs)
NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr) rs62635659
NM_201253.3(CRB1):c.3308G>T (p.Gly1103Val) rs1665084413
NM_201253.3(CRB1):c.3318T>G (p.Tyr1106Ter)
NM_201253.3(CRB1):c.3320T>G (p.Leu1107Arg) rs62636276
NM_201253.3(CRB1):c.3415C>T (p.Gln1139Ter)
NM_201253.3(CRB1):c.3441_3442del (p.Cys1148fs)
NM_201253.3(CRB1):c.3620_3630delinsGACA (p.Thr1207fs)
NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe) rs1450635782
NM_201253.3(CRB1):c.3673_3674dup (p.Asn1225fs)
NM_201253.3(CRB1):c.3712T>C (p.Cys1238Arg)
NM_201253.3(CRB1):c.3749+1G>C
NM_201253.3(CRB1):c.3827_3828del (p.Glu1276fs)
NM_201253.3(CRB1):c.3847del (p.Cys1283fs)
NM_201253.3(CRB1):c.3854G>A (p.Cys1285Tyr) rs1665280076
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser) rs2125506459
NM_201253.3(CRB1):c.3884_3904del (p.Glu1295_Cys1301del) rs2125513549
NM_201253.3(CRB1):c.3896del (p.Asp1299fs) rs2125513602
NM_201253.3(CRB1):c.3914C>T (p.Pro1305Leu)
NM_201253.3(CRB1):c.3961T>A (p.Cys1321Ser) rs62635649
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly) rs62635649
NM_201253.3(CRB1):c.3961del (p.Cys1321fs)
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) rs1057520152
NM_201253.3(CRB1):c.3999_4005+4delinsAAAGGAGAGC rs1665488161
NM_201253.3(CRB1):c.4003G>T (p.Asp1335Tyr) rs1665489039
NM_201253.3(CRB1):c.4073T>A (p.Ile1358Asn) rs1667260204
NM_201253.3(CRB1):c.4085C>A (p.Ala1362Asp) rs1667260968
NM_201253.3(CRB1):c.4142C>G (p.Pro1381Arg) rs1667264651
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu) rs1667264651
NM_201253.3(CRB1):c.441_444del (p.Asp148fs) rs1571848688
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr) rs1571848744
NM_201253.3(CRB1):c.456T>A (p.Cys152Ter)
NM_201253.3(CRB1):c.506del (p.Gly169fs) rs1167867158
NM_201253.3(CRB1):c.549C>A (p.Cys183Ter)
NM_201253.3(CRB1):c.565G>T (p.Glu189Ter) rs1658692554
NM_201253.3(CRB1):c.624T>G (p.Tyr208Ter)
NM_201253.3(CRB1):c.679G>T (p.Glu227Ter)
NM_201253.3(CRB1):c.70+1G>T rs1237424465
NM_201253.3(CRB1):c.71-2A>G rs1383691293
NM_201253.3(CRB1):c.712dup (p.Thr238fs)
NM_201253.3(CRB1):c.721del (p.Asp241fs)
NM_201253.3(CRB1):c.80G>T (p.Cys27Phe) rs1460946384
NM_201253.3(CRB1):c.848+2T>C
NM_201253.3(CRB1):c.894_895del (p.Cys298_Glu299delinsTer)
NM_201253.3(CRB1):c.918G>A (p.Trp306Ter)
NM_201253.3(CRB1):c.974G>A (p.Cys325Tyr) rs1659844562
NM_201253.3(CRB1):c.995_996del (p.Thr332fs) rs1660503192
NM_201253.3(CRB1):c.998del (p.Gly333fs) rs2125354244

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