ClinVar Miner

List of variants in gene CRB1 reported as uncertain significance for Inborn genetic diseases

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Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe) rs140648074 0.00044
NM_201253.3(CRB1):c.1450A>G (p.Thr484Ala) rs144029476 0.00022
NM_201253.3(CRB1):c.2033G>A (p.Ser678Asn) rs139463596 0.00022
NM_201253.3(CRB1):c.3466G>A (p.Asp1156Asn) rs374194344 0.00014
NM_201253.3(CRB1):c.2018A>G (p.Lys673Arg) rs145956521 0.00013
NM_201253.3(CRB1):c.3406G>A (p.Gly1136Ser) rs1166940272 0.00011
NM_201253.3(CRB1):c.3809A>G (p.Asn1270Ser) rs138667698 0.00009
NM_201253.3(CRB1):c.2806G>A (p.Gly936Arg) rs181410446 0.00008
NM_201253.3(CRB1):c.3824C>G (p.Thr1275Arg) rs138089138 0.00008
NM_201253.3(CRB1):c.1945G>A (p.Asp649Asn) rs138936375 0.00006
NM_201253.3(CRB1):c.2668A>G (p.Ser890Gly) rs138259621 0.00005
NM_201253.3(CRB1):c.3852G>A (p.Met1284Ile) rs938864433 0.00005
NM_201253.3(CRB1):c.863G>T (p.Cys288Phe) rs148240351 0.00005
NM_201253.3(CRB1):c.1204T>C (p.Ser402Pro) rs781359016 0.00004
NM_201253.3(CRB1):c.2995C>T (p.Leu999Phe) rs983449864 0.00004
NM_201253.3(CRB1):c.1046A>T (p.Gln349Leu) rs148551147 0.00003
NM_201253.3(CRB1):c.1622A>G (p.Tyr541Cys) rs757083987 0.00003
NM_201253.3(CRB1):c.263C>T (p.Thr88Ile) rs201893755 0.00003
NM_201253.3(CRB1):c.2813A>C (p.Gln938Pro) rs751018219 0.00003
NM_201253.3(CRB1):c.3532A>G (p.Ile1178Val) rs753093284 0.00003
NM_201253.3(CRB1):c.3625G>A (p.Val1209Met) rs201349525 0.00003
NM_201253.3(CRB1):c.3683C>A (p.Thr1228Asn) rs147924782 0.00003
NM_201253.3(CRB1):c.3856C>T (p.Arg1286Trp) rs754054234 0.00003
NM_201253.3(CRB1):c.4157A>G (p.Lys1386Arg) rs776191501 0.00003
NM_201253.3(CRB1):c.1292C>T (p.Thr431Ile) rs751691851 0.00002
NM_201253.3(CRB1):c.1465G>A (p.Glu489Lys) rs1389085632 0.00002
NM_201253.3(CRB1):c.1580G>A (p.Ser527Asn) rs760919218 0.00002
NM_201253.3(CRB1):c.448G>A (p.Asp150Asn) rs1198989948 0.00002
NM_201253.3(CRB1):c.1086A>T (p.Gln362His) rs1022182632 0.00001
NM_201253.3(CRB1):c.2165C>T (p.Thr722Ile) rs375056993 0.00001
NM_201253.3(CRB1):c.2330C>T (p.Pro777Leu) rs886045784 0.00001
NM_201253.3(CRB1):c.265C>T (p.Pro89Ser) rs145525029 0.00001
NM_201253.3(CRB1):c.2713C>T (p.Arg905Trp) rs749366098 0.00001
NM_201253.3(CRB1):c.3355A>C (p.Lys1119Gln) rs1160170943 0.00001
NM_201253.3(CRB1):c.3562C>T (p.His1188Tyr) rs1212583212 0.00001
NM_201253.3(CRB1):c.3727A>C (p.Asn1243His) rs746774206 0.00001
NM_201253.3(CRB1):c.378T>A (p.His126Gln) rs1658673610 0.00001
NM_201253.3(CRB1):c.380A>G (p.Gln127Arg) rs752917560 0.00001
NM_201253.3(CRB1):c.3857G>A (p.Arg1286Gln) rs755035239 0.00001
NM_201253.3(CRB1):c.4156A>G (p.Lys1386Glu) rs770368026 0.00001
NM_201253.3(CRB1):c.4202C>T (p.Ala1401Val) rs757543515 0.00001
NM_201253.3(CRB1):c.92A>C (p.Asn31Thr) rs1030616952 0.00001
NM_201253.3(CRB1):c.965A>G (p.Asn322Ser) rs576263609 0.00001
NM_201253.3(CRB1):c.1073C>T (p.Ser358Phe)
NM_201253.3(CRB1):c.1093C>A (p.Arg365Ser) rs116347915
NM_201253.3(CRB1):c.1093C>T (p.Arg365Cys) rs116347915
NM_201253.3(CRB1):c.1127A>T (p.His376Leu)
NM_201253.3(CRB1):c.1253A>C (p.Asn418Thr) rs539152735
NM_201253.3(CRB1):c.1597G>A (p.Val533Met) rs1321368095
NM_201253.3(CRB1):c.1621T>C (p.Tyr541His)
NM_201253.3(CRB1):c.1647T>A (p.Asn549Lys) rs62636283
NM_201253.3(CRB1):c.1703A>C (p.His568Pro) rs756039000
NM_201253.3(CRB1):c.178G>A (p.Ala60Thr) rs750294087
NM_201253.3(CRB1):c.1889T>C (p.Phe630Ser) rs2528112650
NM_201253.3(CRB1):c.2023T>A (p.Trp675Arg)
NM_201253.3(CRB1):c.2123T>G (p.Leu708Arg)
NM_201253.3(CRB1):c.2164A>G (p.Thr722Ala)
NM_201253.3(CRB1):c.2282A>G (p.Gln761Arg) rs1425910355
NM_201253.3(CRB1):c.2284T>C (p.Tyr762His)
NM_201253.3(CRB1):c.2426A>G (p.Gln809Arg) rs1410617337
NM_201253.3(CRB1):c.246T>A (p.Ser82Arg) rs1265790269
NM_201253.3(CRB1):c.2659G>C (p.Gly887Arg)
NM_201253.3(CRB1):c.2708A>T (p.His903Leu)
NM_201253.3(CRB1):c.2762C>T (p.Ala921Val) rs759124926
NM_201253.3(CRB1):c.283C>G (p.Leu95Val)
NM_201253.3(CRB1):c.3067C>G (p.Leu1023Val)
NM_201253.3(CRB1):c.3137C>T (p.Ser1046Phe) rs1665065652
NM_201253.3(CRB1):c.3148A>T (p.Arg1050Trp)
NM_201253.3(CRB1):c.3163G>C (p.Val1055Leu) rs2528199225
NM_201253.3(CRB1):c.3225G>C (p.Lys1075Asn)
NM_201253.3(CRB1):c.3247G>A (p.Gly1083Arg)
NM_201253.3(CRB1):c.3257C>T (p.Ala1086Val) rs1333615793
NM_201253.3(CRB1):c.3343G>T (p.Gly1115Cys) rs779253997
NM_201253.3(CRB1):c.3535G>A (p.Asp1179Asn) rs765700280
NM_201253.3(CRB1):c.3590C>G (p.Ala1197Gly)
NM_201253.3(CRB1):c.363T>A (p.His121Gln)
NM_201253.3(CRB1):c.3994T>A (p.Cys1332Ser) rs2528244750
NM_201253.3(CRB1):c.4151A>G (p.Gln1384Arg) rs2528461496
NM_201253.3(CRB1):c.4163G>A (p.Gly1388Asp) rs765740058
NM_201253.3(CRB1):c.495T>G (p.Asp165Glu)
NM_201253.3(CRB1):c.617G>A (p.Gly206Glu)
NM_201253.3(CRB1):c.647A>G (p.Tyr216Cys)
NM_201253.3(CRB1):c.737A>G (p.Tyr246Cys)
NM_201253.3(CRB1):c.755C>G (p.Pro252Arg)
NM_201253.3(CRB1):c.796T>A (p.Cys266Ser) rs1659650891
NM_201253.3(CRB1):c.869G>C (p.Gly290Ala)

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