ClinVar Miner

List of variants studied for Bietti crystalline corneoretinal dystrophy by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 146
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HGVS dbSNP
NM_207352.3(CYP4V2):c.-296A>C rs7662717
NM_207352.3(CYP4V2):c.-302G>A rs549805175
NM_207352.4(CYP4V2):c.*1023T>C rs62348764
NM_207352.4(CYP4V2):c.*1023_*1024del rs886059287
NM_207352.4(CYP4V2):c.*1023_*1026del rs886059286
NM_207352.4(CYP4V2):c.*1025_*1026CA[18] rs60425964
NM_207352.4(CYP4V2):c.*1025_*1026CA[19] rs60425964
NM_207352.4(CYP4V2):c.*1027C>T rs541778964
NM_207352.4(CYP4V2):c.*1052A>T
NM_207352.4(CYP4V2):c.*1053C>T rs62348765
NM_207352.4(CYP4V2):c.*1054_*1055insTA rs144125100
NM_207352.4(CYP4V2):c.*1056_*1057insCACACATACA rs1554075269
NM_207352.4(CYP4V2):c.*1056_*1057insCATACA rs1554075269
NM_207352.4(CYP4V2):c.*1057T>C rs62348766
NM_207352.4(CYP4V2):c.*1057delinsCACACACAC rs869178465
NM_207352.4(CYP4V2):c.*1057delinsCACACACACAC rs869178465
NM_207352.4(CYP4V2):c.*1057delinsCACACACACACACAC rs869178465
NM_207352.4(CYP4V2):c.*1057delinsCACACACACACACACACACAC rs869178465
NM_207352.4(CYP4V2):c.*1057delinsCACACACACACACACACACACATACAC rs869178465
NM_207352.4(CYP4V2):c.*1057delinsCACACACACATACAC rs869178465
NM_207352.4(CYP4V2):c.*1057delinsCACACATACAC rs869178465
NM_207352.4(CYP4V2):c.*1057delinsCACATACAC rs869178465
NM_207352.4(CYP4V2):c.*1059_*1060CA[5] rs58524374
NM_207352.4(CYP4V2):c.*1123_*1127del rs574084304
NM_207352.4(CYP4V2):c.*1148A>G rs10011736
NM_207352.4(CYP4V2):c.*1159T>A rs565805219
NM_207352.4(CYP4V2):c.*1236A>T rs1053094
NM_207352.4(CYP4V2):c.*1238C>T
NM_207352.4(CYP4V2):c.*1317T>C rs886059291
NM_207352.4(CYP4V2):c.*1417T>A rs886059292
NM_207352.4(CYP4V2):c.*1463G>C
NM_207352.4(CYP4V2):c.*1474G>T
NM_207352.4(CYP4V2):c.*1496G>C
NM_207352.4(CYP4V2):c.*1503A>C
NM_207352.4(CYP4V2):c.*1589C>T
NM_207352.4(CYP4V2):c.*160A>G
NM_207352.4(CYP4V2):c.*1638G>A rs72646300
NM_207352.4(CYP4V2):c.*1690C>T
NM_207352.4(CYP4V2):c.*1705C>T
NM_207352.4(CYP4V2):c.*1721A>G
NM_207352.4(CYP4V2):c.*1722T>C
NM_207352.4(CYP4V2):c.*172T>C
NM_207352.4(CYP4V2):c.*1737A>G rs78965616
NM_207352.4(CYP4V2):c.*1756T>C
NM_207352.4(CYP4V2):c.*175A>G rs192122143
NM_207352.4(CYP4V2):c.*1774C>T rs779828762
NM_207352.4(CYP4V2):c.*1781A>C rs6842047
NM_207352.4(CYP4V2):c.*1851A>G rs886059293
NM_207352.4(CYP4V2):c.*1967C>T rs886059294
NM_207352.4(CYP4V2):c.*1986G>A
NM_207352.4(CYP4V2):c.*198A>T
NM_207352.4(CYP4V2):c.*2010G>A
NM_207352.4(CYP4V2):c.*2017T>C rs886059295
NM_207352.4(CYP4V2):c.*204T>C
NM_207352.4(CYP4V2):c.*2078T>C
NM_207352.4(CYP4V2):c.*2106G>T rs72646302
NM_207352.4(CYP4V2):c.*210dup rs199938898
NM_207352.4(CYP4V2):c.*2116A>C
NM_207352.4(CYP4V2):c.*2139G>A
NM_207352.4(CYP4V2):c.*2163G>A
NM_207352.4(CYP4V2):c.*2166C>G
NM_207352.4(CYP4V2):c.*2176T>C rs543284486
NM_207352.4(CYP4V2):c.*2189A>G
NM_207352.4(CYP4V2):c.*2266A>G
NM_207352.4(CYP4V2):c.*2281A>G
NM_207352.4(CYP4V2):c.*2303G>C rs576134216
NM_207352.4(CYP4V2):c.*232G>A
NM_207352.4(CYP4V2):c.*2373G>C
NM_207352.4(CYP4V2):c.*2399C>T rs56413992
NM_207352.4(CYP4V2):c.*2590T>C
NM_207352.4(CYP4V2):c.*2622A>T rs561265305
NM_207352.4(CYP4V2):c.*2708A>G
NM_207352.4(CYP4V2):c.*2748A>G rs111816209
NM_207352.4(CYP4V2):c.*2751A>G
NM_207352.4(CYP4V2):c.*282A>C
NM_207352.4(CYP4V2):c.*364T>A rs7697077
NM_207352.4(CYP4V2):c.*364T>G rs7697077
NM_207352.4(CYP4V2):c.*392G>A rs185369023
NM_207352.4(CYP4V2):c.*449C>T
NM_207352.4(CYP4V2):c.*452C>T rs564129543
NM_207352.4(CYP4V2):c.*4T>C rs76978024
NM_207352.4(CYP4V2):c.*636A>G
NM_207352.4(CYP4V2):c.*659A>G rs886059284
NM_207352.4(CYP4V2):c.*715C>T rs770372165
NM_207352.4(CYP4V2):c.*725C>T rs10033577
NM_207352.4(CYP4V2):c.*741C>T rs10033581
NM_207352.4(CYP4V2):c.*810C>G
NM_207352.4(CYP4V2):c.*829C>T rs886059285
NM_207352.4(CYP4V2):c.*836C>A
NM_207352.4(CYP4V2):c.*888G>A rs769774997
NM_207352.4(CYP4V2):c.*923G>A
NM_207352.4(CYP4V2):c.*999C>T
NM_207352.4(CYP4V2):c.-128A>G rs531909464
NM_207352.4(CYP4V2):c.-130del rs200054565
NM_207352.4(CYP4V2):c.-133G>T
NM_207352.4(CYP4V2):c.-146C>T rs1398007
NM_207352.4(CYP4V2):c.-152A>G rs2241819
NM_207352.4(CYP4V2):c.-178C>T rs886059279
NM_207352.4(CYP4V2):c.-199C>T rs886059278
NM_207352.4(CYP4V2):c.-22C>G
NM_207352.4(CYP4V2):c.-56C>G rs886059280
NM_207352.4(CYP4V2):c.1062A>G (p.Lys354=)
NM_207352.4(CYP4V2):c.1083C>T (p.Asp361=) rs10029149
NM_207352.4(CYP4V2):c.1091-15A>G
NM_207352.4(CYP4V2):c.1091-2A>G rs199476183
NM_207352.4(CYP4V2):c.1091-4T>A rs61748269
NM_207352.4(CYP4V2):c.1103G>A (p.Arg368His)
NM_207352.4(CYP4V2):c.1120G>T (p.Asp374Tyr)
NM_207352.4(CYP4V2):c.1184T>C (p.Val395Ala)
NM_207352.4(CYP4V2):c.1225+14A>G rs886059282
NM_207352.4(CYP4V2):c.1289C>T (p.Pro430Leu) rs144008429
NM_207352.4(CYP4V2):c.1328G>A (p.Arg443Gln) rs72646291
NM_207352.4(CYP4V2):c.1338C>G (p.Pro446=) rs35524919
NM_207352.4(CYP4V2):c.1338C>T (p.Pro446=)
NM_207352.4(CYP4V2):c.1339G>A (p.Glu447Lys) rs200623218
NM_207352.4(CYP4V2):c.1344T>C (p.Asn448=)
NM_207352.4(CYP4V2):c.1423A>G (p.Met475Val) rs762821992
NM_207352.4(CYP4V2):c.1446G>A (p.Ser482=) rs141950964
NM_207352.4(CYP4V2):c.1536C>T (p.Gly512=) rs72646298
NM_207352.4(CYP4V2):c.163C>A (p.Arg55Ser) rs760001831
NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp) rs199476185
NM_207352.4(CYP4V2):c.24C>T (p.Leu8=) rs202148693
NM_207352.4(CYP4V2):c.282C>T (p.Val94=) rs142775374
NM_207352.4(CYP4V2):c.302C>T (p.Ala101Val) rs143272248
NM_207352.4(CYP4V2):c.311A>G (p.Asn104Ser) rs886059281
NM_207352.4(CYP4V2):c.327+11G>C rs62350517
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val) rs149684063
NM_207352.4(CYP4V2):c.555A>T (p.Ala185=) rs11932764
NM_207352.4(CYP4V2):c.610G>A (p.Ala204Thr) rs61745524
NM_207352.4(CYP4V2):c.626T>C (p.Ile209Thr) rs376640607
NM_207352.4(CYP4V2):c.638G>A (p.Ser213Asn) rs34331648
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138
NM_207352.4(CYP4V2):c.661C>T (p.Arg221Cys) rs745471184
NM_207352.4(CYP4V2):c.662G>A (p.Arg221His) rs763083895
NM_207352.4(CYP4V2):c.674+14T>C
NM_207352.4(CYP4V2):c.736C>G (p.Leu246Val) rs531538384
NM_207352.4(CYP4V2):c.772C>A (p.Leu258Ile)
NM_207352.4(CYP4V2):c.775C>A (p.Gln259Lys) rs13146272
NM_207352.4(CYP4V2):c.802-7C>T rs3817184
NM_207352.4(CYP4V2):c.802-8_810delinsGC rs207482233
NM_207352.4(CYP4V2):c.810T>G (p.Ala270=) rs3736455
NM_207352.4(CYP4V2):c.823G>A (p.Glu275Lys) rs34745240
NM_207352.4(CYP4V2):c.841G>A (p.Asp281Asn)
NM_207352.4(CYP4V2):c.846T>C (p.Cys282=) rs3736456
NM_207352.4(CYP4V2):c.987+7T>C
NM_207352.4(CYP4V2):c.99G>A (p.Leu33=)

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