ClinVar Miner

List of variants studied for Bietti crystalline corneoretinal dystrophy

Included ClinVar conditions (1):
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Minimum conflict level:
ClinVar version:
Total variants: 188
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HGVS dbSNP gnomAD frequency
NM_207352.4(CYP4V2):c.*1781A>C rs6842047 0.89083
NM_207352.4(CYP4V2):c.*725C>T rs10033577 0.89040
NM_207352.3(CYP4V2):c.-296A>C rs7662717 0.86820
NM_207352.4(CYP4V2):c.*741C>T rs10033581 0.81342
NM_207352.4(CYP4V2):c.810T>G (p.Ala270=) rs3736455 0.62273
NM_207352.4(CYP4V2):c.775C>A (p.Gln259Lys) rs13146272 0.60911
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138 0.46276
NM_207352.4(CYP4V2):c.*1236A>T rs1053094 0.45426
NM_207352.4(CYP4V2):c.-146C>T rs1398007 0.41622
NM_207352.4(CYP4V2):c.-152A>G rs2241819 0.39682
NM_207352.4(CYP4V2):c.802-7C>T rs3817184 0.36293
NM_207352.4(CYP4V2):c.*2399C>T rs56413992 0.15680
NM_207352.4(CYP4V2):c.846T>C (p.Cys282=) rs3736456 0.07854
NM_207352.4(CYP4V2):c.1083C>T (p.Asp361=) rs10029149 0.07706
NM_207352.4(CYP4V2):c.*1638G>A rs72646300 0.07687
NM_207352.4(CYP4V2):c.*1148A>G rs10011736 0.07494
NM_207352.4(CYP4V2):c.327+11G>C rs62350517 0.05079
NM_207352.4(CYP4V2):c.555A>T (p.Ala185=) rs11932764 0.04735
NM_207352.4(CYP4V2):c.823G>A (p.Glu275Lys) rs34745240 0.03921
NM_207352.4(CYP4V2):c.*1503A>C rs55678259 0.03671
NM_207352.4(CYP4V2):c.*1057T>C rs62348766 0.02979
NM_207352.4(CYP4V2):c.638G>A (p.Ser213Asn) rs34331648 0.02714
NM_207352.4(CYP4V2):c.*1474G>T rs77175303 0.01464
NM_207352.4(CYP4V2):c.1091-4T>A rs61748269 0.01211
NM_207352.4(CYP4V2):c.1536C>T (p.Gly512=) rs72646298 0.01209
NM_207352.4(CYP4V2):c.-128A>G rs531909464 0.01113
NM_207352.4(CYP4V2):c.-130del rs200054565 0.01110
NM_207352.4(CYP4V2):c.*2106G>T rs72646302 0.01061
NM_207352.4(CYP4V2):c.*1053C>T rs62348765 0.00964
NM_207352.4(CYP4V2):c.*4T>C rs76978024 0.00479
NM_207352.4(CYP4V2):c.*1023T>C rs62348764 0.00326
NM_207352.4(CYP4V2):c.1328G>A (p.Arg443Gln) rs72646291 0.00306
NM_207352.4(CYP4V2):c.610G>A (p.Ala204Thr) rs61745524 0.00299
NM_207352.4(CYP4V2):c.*160A>G rs187506967 0.00263
NM_207352.4(CYP4V2):c.*392G>A rs185369023 0.00239
NM_207352.4(CYP4V2):c.*2590T>C rs532291947 0.00191
NM_207352.4(CYP4V2):c.99G>A (p.Leu33=) rs145611966 0.00169
NM_207352.4(CYP4V2):c.*175A>G rs192122143 0.00158
NM_207352.4(CYP4V2):c.*1463G>C rs549421198 0.00123
NM_207352.4(CYP4V2):c.*1159T>A rs565805219 0.00111
NM_207352.3(CYP4V2):c.-302G>A rs549805175 0.00107
NM_207352.4(CYP4V2):c.*715C>T rs770372165 0.00096
NM_207352.4(CYP4V2):c.1446G>A (p.Ser482=) rs141950964 0.00089
NM_207352.4(CYP4V2):c.*2078T>C rs531522779 0.00084
NM_207352.4(CYP4V2):c.24C>T (p.Leu8=) rs202148693 0.00077
NM_207352.4(CYP4V2):c.*1589C>T rs144839540 0.00071
NM_207352.4(CYP4V2):c.*1737A>G rs78965616 0.00053
NM_207352.4(CYP4V2):c.*232G>A rs145900260 0.00052
NM_207352.4(CYP4V2):c.*2010G>A rs190455204 0.00043
NM_207352.4(CYP4V2):c.*1774C>T rs779828762 0.00035
NM_207352.4(CYP4V2):c.*923G>A rs943194261 0.00035
NM_207352.4(CYP4V2):c.282C>T (p.Val94=) rs142775374 0.00035
NM_207352.4(CYP4V2):c.*2163G>A rs565869902 0.00031
NM_207352.4(CYP4V2):c.*452C>T rs564129543 0.00025
NM_207352.4(CYP4V2):c.*2266A>G rs934968593 0.00024
NM_207352.4(CYP4V2):c.130T>A (p.Trp44Arg) rs119103282 0.00024
NM_207352.4(CYP4V2):c.1103G>A (p.Arg368His) rs138739819 0.00021
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val) rs149684063 0.00021
NM_207352.4(CYP4V2):c.674+14T>C rs201205689 0.00020
NM_207352.4(CYP4V2):c.414-1G>A rs767779208 0.00015
NM_207352.4(CYP4V2):c.1120G>T (p.Asp374Tyr) rs376015936 0.00013
NM_207352.4(CYP4V2):c.*1986G>A rs146050895 0.00012
NM_207352.4(CYP4V2):c.*1851A>G rs886059293 0.00010
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys) rs138444697 0.00010
NM_207352.4(CYP4V2):c.1289C>T (p.Pro430Leu) rs144008429 0.00010
NM_207352.4(CYP4V2):c.*1238C>T rs180813595 0.00009
NM_207352.4(CYP4V2):c.-178C>T rs886059279 0.00009
NM_207352.4(CYP4V2):c.992A>C (p.His331Pro) rs199476197 0.00008
NM_207352.4(CYP4V2):c.1184T>C (p.Val395Ala) rs143711287 0.00007
NM_207352.4(CYP4V2):c.*1690C>T rs536605930 0.00006
NM_207352.4(CYP4V2):c.*2176T>C rs543284486 0.00006
NM_207352.4(CYP4V2):c.*2303G>C rs576134216 0.00006
NM_207352.4(CYP4V2):c.1339G>A (p.Glu447Lys) rs200623218 0.00006
NM_207352.4(CYP4V2):c.*2189A>G rs537197865 0.00005
NM_207352.4(CYP4V2):c.*2373G>C rs572480731 0.00005
NM_207352.4(CYP4V2):c.*810C>G rs11947391 0.00005
NM_207352.4(CYP4V2):c.1091-2A>G rs199476183 0.00005
NM_207352.4(CYP4V2):c.332T>C (p.Ile111Thr) rs119103283 0.00005
NM_207352.4(CYP4V2):c.400G>T (p.Gly134Ter) rs199476189 0.00005
NM_207352.4(CYP4V2):c.*172T>C rs1043961395 0.00004
NM_207352.4(CYP4V2):c.*2017T>C rs886059295 0.00004
NM_207352.4(CYP4V2):c.*2281A>G rs759670605 0.00004
NM_207352.4(CYP4V2):c.*2622A>T rs561265305 0.00004
NM_207352.4(CYP4V2):c.163C>A (p.Arg55Ser) rs760001831 0.00004
NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp) rs199476185 0.00004
NM_207352.4(CYP4V2):c.662G>A (p.Arg221His) rs763083895 0.00004
NM_207352.4(CYP4V2):c.*2139G>A rs546961288 0.00003
NM_207352.4(CYP4V2):c.1199G>A (p.Arg400His) rs199476203 0.00003
NM_207352.4(CYP4V2):c.1423A>G (p.Met475Val) rs762821992 0.00003
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His) rs119103284 0.00003
NM_207352.4(CYP4V2):c.626T>C (p.Ile209Thr) rs376640607 0.00003
NM_207352.4(CYP4V2):c.*1721A>G rs925222658 0.00002
NM_207352.4(CYP4V2):c.*2748A>G rs111816209 0.00002
NM_207352.4(CYP4V2):c.-22C>G rs894067959 0.00002
NM_207352.4(CYP4V2):c.1344T>C (p.Asn448=) rs72646292 0.00002
NM_207352.4(CYP4V2):c.694C>T (p.Arg232Ter) rs369063468 0.00002
NM_207352.4(CYP4V2):c.*1417T>A rs886059292 0.00001
NM_207352.4(CYP4V2):c.*1756T>C rs1046943032 0.00001
NM_207352.4(CYP4V2):c.*2166C>G rs192436436 0.00001
NM_207352.4(CYP4V2):c.*2708A>G rs1463658668 0.00001
NM_207352.4(CYP4V2):c.*282A>C rs994768815 0.00001
NM_207352.4(CYP4V2):c.1187C>T (p.Pro396Leu) rs199476202 0.00001
NM_207352.4(CYP4V2):c.120C>G (p.Tyr40Ter) rs1481160549 0.00001
NM_207352.4(CYP4V2):c.1348C>T (p.Gln450Ter) rs199476204 0.00001
NM_207352.4(CYP4V2):c.253C>T (p.Arg85Cys) rs199476186 0.00001
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg) rs199476187 0.00001
NM_207352.4(CYP4V2):c.302C>T (p.Ala101Val) rs143272248 0.00001
NM_207352.4(CYP4V2):c.661C>T (p.Arg221Cys) rs745471184 0.00001
NM_207352.4(CYP4V2):c.736C>G (p.Leu246Val) rs531538384 0.00001
NM_207352.4(CYP4V2):c.761A>G (p.His254Arg) rs199476193 0.00001
NM_207352.4(CYP4V2):c.772C>A (p.Leu258Ile) rs761190623 0.00001
NM_207352.4(CYP4V2):c.801+1G>A rs761362530 0.00001
NM_207352.4(CYP4V2):c.974C>T (p.Thr325Ile) rs199476196 0.00001
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs) rs387906385
NM_000350.3(ABCA4):c.3522+6T>C rs1570370713
NM_207352.4(CYP4V2):c.*1023_*1024del rs886059287
NM_207352.4(CYP4V2):c.*1023_*1026del rs886059286
NM_207352.4(CYP4V2):c.*1025CA[18] rs60425964
NM_207352.4(CYP4V2):c.*1025CA[19] rs60425964
NM_207352.4(CYP4V2):c.*1027C>T rs541778964
NM_207352.4(CYP4V2):c.*1052A>T rs961919705
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.*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.*1059CA[5] rs58524374
NM_207352.4(CYP4V2):c.*1123_*1127del rs574084304
NM_207352.4(CYP4V2):c.*1317T>C rs886059291
NM_207352.4(CYP4V2):c.*1496G>C rs1736743651
NM_207352.4(CYP4V2):c.*1705C>T rs1736750061
NM_207352.4(CYP4V2):c.*1722T>C rs1736750645
NM_207352.4(CYP4V2):c.*1967C>T rs886059294
NM_207352.4(CYP4V2):c.*198A>T rs150697121
NM_207352.4(CYP4V2):c.*204T>C rs577711483
NM_207352.4(CYP4V2):c.*210dup rs199938898
NM_207352.4(CYP4V2):c.*2116A>C rs1736768091
NM_207352.4(CYP4V2):c.*2751A>G rs963988307
NM_207352.4(CYP4V2):c.*364T>A rs7697077
NM_207352.4(CYP4V2):c.*364T>G rs7697077
NM_207352.4(CYP4V2):c.*449C>T rs1736705065
NM_207352.4(CYP4V2):c.*636A>G rs1736711167
NM_207352.4(CYP4V2):c.*659A>G rs886059284
NM_207352.4(CYP4V2):c.*829C>T rs886059285
NM_207352.4(CYP4V2):c.*836C>A rs535179510
NM_207352.4(CYP4V2):c.*888G>A rs769774997
NM_207352.4(CYP4V2):c.*999C>T rs556923527
NM_207352.4(CYP4V2):c.-133G>T rs562885669
NM_207352.4(CYP4V2):c.-199C>T rs886059278
NM_207352.4(CYP4V2):c.-56C>G rs886059280
NM_207352.4(CYP4V2):c.1020G>A (p.Trp340Ter) rs199476198
NM_207352.4(CYP4V2):c.1021T>C (p.Ser341Pro) rs199476199
NM_207352.4(CYP4V2):c.1062A>G (p.Lys354=) rs1736463662
NM_207352.4(CYP4V2):c.1091-15A>G rs1300763823
NM_207352.4(CYP4V2):c.1123del (p.Asp374_Leu375insTer) rs1579976512
NM_207352.4(CYP4V2):c.1157A>C (p.Lys386Thr) rs199476200
NM_207352.4(CYP4V2):c.1169G>A (p.Arg390His) rs199476201
NM_207352.4(CYP4V2):c.1169G>T (p.Arg390Leu) rs199476201
NM_207352.4(CYP4V2):c.1219G>T (p.Glu407Ter) rs2126600867
NM_207352.4(CYP4V2):c.1225+14A>G rs886059282
NM_207352.4(CYP4V2):c.1226-6_1235del rs199476184
NM_207352.4(CYP4V2):c.1338C>G (p.Pro446=) rs35524919
NM_207352.4(CYP4V2):c.1338C>T (p.Pro446=) rs35524919
NM_207352.4(CYP4V2):c.1396A>G (p.Asn466Asp) rs797045181
NM_207352.4(CYP4V2):c.1445C>A (p.Ser482Ter) rs146494374
NM_207352.4(CYP4V2):c.1526C>T (p.Pro509Leu) rs199476205
NM_207352.4(CYP4V2):c.176del (p.Leu59fs) rs1735999769
NM_207352.4(CYP4V2):c.181G>A (p.Gly61Ser) rs119103285
NM_207352.4(CYP4V2):c.267del (p.Leu89_Leu90insTer) rs2126582121
NM_207352.4(CYP4V2):c.311A>G (p.Asn104Ser) rs886059281
NM_207352.4(CYP4V2):c.327+1G>A rs199476182
NM_207352.4(CYP4V2):c.335T>G (p.Leu112Ter) rs199476188
NM_207352.4(CYP4V2):c.501_504del (p.Glu168fs) rs746484929
NM_207352.4(CYP4V2):c.518T>G (p.Leu173Trp) rs199476190
NM_207352.4(CYP4V2):c.655T>C (p.Tyr219His) rs199476191
NM_207352.4(CYP4V2):c.759dup (p.His254fs) rs199476192
NM_207352.4(CYP4V2):c.802-8_810delinsGC rs207482233
NM_207352.4(CYP4V2):c.833C>T (p.Ala278Val)
NM_207352.4(CYP4V2):c.841G>A (p.Asp281Asn) rs913510827
NM_207352.4(CYP4V2):c.958C>T (p.Arg320Ter) rs199476194
NM_207352.4(CYP4V2):c.971A>T (p.Asp324Val) rs199476195
NM_207352.4(CYP4V2):c.987+7T>C rs1736302352

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