ClinVar Miner

List of variants in gene CRB1 reported by Baylor Genetics

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Gene type:
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Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343 0.00096
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) rs137853137 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
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.2688T>A (p.Cys896Ter) rs62636273 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.3307G>A (p.Gly1103Arg) rs62636275 0.00003
NM_201253.3(CRB1):c.4168C>T (p.Arg1390Ter) rs763324776 0.00003
NM_201253.3(CRB1):c.1084C>T (p.Gln362Ter) rs778627080 0.00002
NM_201253.3(CRB1):c.1841G>T (p.Gly614Val) rs763111500 0.00002
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val) rs145282040 0.00002
NM_201253.3(CRB1):c.3488G>T (p.Cys1163Phe) rs768713412 0.00002
NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter) rs757740068 0.00002
NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys) rs760544654 0.00002
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) rs114342808 0.00001
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.2548G>A (p.Gly850Ser) rs776591659 0.00001
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) rs62636271 0.00001
NM_201253.3(CRB1):c.2842+5G>A rs773914330 0.00001
NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr) rs62635656 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.4006-10A>G rs766850702 0.00001
NM_201253.3(CRB1):c.4039del (p.Thr1347fs) rs745422941 0.00001
NM_201253.3(CRB1):c.407G>A (p.Cys136Tyr) rs752559648 0.00001
NM_201253.3(CRB1):c.1003C>T (p.Gln335Ter)
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.1182C>A (p.Cys394Ter) rs115352681
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter) rs369775002
NM_201253.3(CRB1):c.1208C>G (p.Ser403Ter) rs62645746
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.139del (p.Asp47fs)
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.1431del (p.Ser478fs) rs1553260321
NM_201253.3(CRB1):c.1445_1453del (p.Ile482_Thr484del) rs780580887
NM_201253.3(CRB1):c.1465G>T (p.Glu489Ter)
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.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.2024G>A (p.Trp675Ter) rs1664348016
NM_201253.3(CRB1):c.2035C>T (p.Gln679Ter)
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr) rs62636266
NM_201253.3(CRB1):c.2096_2100dup (p.Pro701fs)
NM_201253.3(CRB1):c.2128+1G>C rs2125472205
NM_201253.3(CRB1):c.2172T>A (p.Tyr724Ter)
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.2245_2247del (p.Ser749del) rs62635653
NM_201253.3(CRB1):c.2246C>G (p.Ser749Ter)
NM_201253.3(CRB1):c.2263_2272del (p.Leu755fs)
NM_201253.3(CRB1):c.2365_2367del (p.Asn789del) rs1433518605
NM_201253.3(CRB1):c.2416G>T (p.Glu806Ter) rs766411096
NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp) rs1571540258
NM_201253.3(CRB1):c.2505_2508del (p.Pro836fs) rs778419716
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs) rs745348555
NM_201253.3(CRB1):c.2536G>T (p.Gly846Ter)
NM_201253.3(CRB1):c.2570_2574del (p.Leu857fs)
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser) rs910489135
NM_201253.3(CRB1):c.2676+1G>A
NM_201253.3(CRB1):c.2677-1G>T
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.2981_2982del (p.Lys994fs)
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val) rs369184026
NM_201253.3(CRB1):c.3017C>A (p.Ser1006Tyr)
NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter) rs143511261
NM_201253.3(CRB1):c.3121A>G (p.Met1041Val) rs781705903
NM_201253.3(CRB1):c.3143_3154delinsA (p.Thr1048fs) rs1665066272
NM_201253.3(CRB1):c.3157A>G (p.Met1053Val)
NM_201253.3(CRB1):c.3194del (p.Thr1065fs)
NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr) rs62635659
NM_201253.3(CRB1):c.3318T>G (p.Tyr1106Ter)
NM_201253.3(CRB1):c.3343_3352del (p.Gly1115fs)
NM_201253.3(CRB1):c.3415C>T (p.Gln1139Ter)
NM_201253.3(CRB1):c.3427del (p.Cys1143fs) rs2125500431
NM_201253.3(CRB1):c.3441_3442del (p.Cys1148fs)
NM_201253.3(CRB1):c.3442T>C (p.Cys1148Arg) rs2125500491
NM_201253.3(CRB1):c.3542dup (p.Cys1181fs) rs1553263218
NM_201253.3(CRB1):c.358C>T (p.Gln120Ter) rs1658671768
NM_201253.3(CRB1):c.3620_3630delinsGACA (p.Thr1207fs)
NM_201253.3(CRB1):c.3673_3674dup (p.Asn1225fs)
NM_201253.3(CRB1):c.3712T>C (p.Cys1238Arg)
NM_201253.3(CRB1):c.3713_3716dup (p.Cys1240fs) rs1366609497
NM_201253.3(CRB1):c.3749+1G>C
NM_201253.3(CRB1):c.3847del (p.Cys1283fs)
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser) rs2125506459
NM_201253.3(CRB1):c.3879G>A (p.Trp1293Ter) rs281865174
NM_201253.3(CRB1):c.3914C>T (p.Pro1305Leu)
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly) rs62635649
NM_201253.3(CRB1):c.3961del (p.Cys1321fs)
NM_201253.3(CRB1):c.3988G>T (p.Glu1330Ter) rs1372774777
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) rs1057520152
NM_201253.3(CRB1):c.4005+1G>A rs890453675
NM_201253.3(CRB1):c.4006-1G>T rs752804194
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu) rs1667264651
NM_201253.3(CRB1):c.4163G>A (p.Gly1388Asp) rs765740058
NM_201253.3(CRB1):c.4207G>C (p.Glu1403Gln) rs1667269806
NM_201253.3(CRB1):c.441_444del (p.Asp148fs) rs1571848688
NM_201253.3(CRB1):c.456T>A (p.Cys152Ter)
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201253.3(CRB1):c.549C>A (p.Cys183Ter)
NM_201253.3(CRB1):c.565G>T (p.Glu189Ter) rs1658692554
NM_201253.3(CRB1):c.57dup (p.Ile20fs) rs1343680080
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.624T>G (p.Tyr208Ter)
NM_201253.3(CRB1):c.679G>T (p.Glu227Ter)
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+1G>A rs2125328634
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.995_996del (p.Thr332fs) rs1660503192

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