ClinVar Miner

List of variants reported as uncertain significance for Axenfeld-Rieger syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 262
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HGVS dbSNP gnomAD frequency
NM_153427.2(PITX2):c.-1137G>A rs141922822 0.00086
NM_153427.2(PITX2):c.-436G>C rs1026660025 0.00045
NM_000325.6(PITX2):c.*687A>G rs185925533 0.00043
NM_000325.6(PITX2):c.*522T>C rs188349821 0.00032
NM_001453.3(FOXC1):c.1211C>T (p.Ala404Val) rs865901577 0.00026
NM_001453.3(FOXC1):c.1486G>A (p.Gly496Ser) rs775345164 0.00017
NM_153427.3(PITX2):c.-40G>A rs942688607 0.00016
NM_001453.3(FOXC1):c.1403G>C (p.Gly468Ala) rs919121619 0.00012
NM_001453.3(FOXC1):c.1109G>C (p.Ser370Thr) rs535065221 0.00011
NM_000325.6(PITX2):c.*176A>T rs567517676 0.00009
NM_001453.3(FOXC1):c.1064C>T (p.Pro355Leu) rs886043447 0.00008
NM_001453.3(FOXC1):c.1337A>G (p.His446Arg) rs1413102496 0.00007
NM_001453.3(FOXC1):c.1469C>T (p.Ala490Val) rs767729842 0.00007
NM_001453.3(FOXC1):c.808G>C (p.Gly270Arg) rs901581290 0.00007
NM_000325.6(PITX2):c.*440C>T rs1301785358 0.00006
NM_001453.3(FOXC1):c.1412C>G (p.Thr471Ser) rs758013827 0.00006
NM_153427.2(PITX2):c.-1421G>C rs758425186 0.00006
NM_153427.2(PITX2):c.-501T>G rs915152120 0.00006
NM_001453.3(FOXC1):c.1337_1342dup (p.Gly447_Gly448insAspGly) rs756037576 0.00005
NM_153427.2(PITX2):c.-270A>G rs1163979542 0.00005
NM_153427.2(PITX2):c.-1092G>A rs754809224 0.00004
NM_153427.2(PITX2):c.-920C>T rs779178803 0.00004
NM_000325.6(PITX2):c.*107A>C rs752553102 0.00003
NM_000325.6(PITX2):c.*264A>C rs886059006 0.00003
NM_001453.3(FOXC1):c.1267G>A (p.Ala423Thr) rs281865460 0.00003
NM_001453.3(FOXC1):c.532G>C (p.Asp178His) rs751970827 0.00003
NM_001453.3(FOXC1):c.807C>G (p.Ser269Arg) rs1277775861 0.00003
NM_000325.6(PITX2):c.*572T>C rs886059003 0.00002
NM_001453.3(FOXC1):c.1154G>A (p.Gly385Glu) rs1215019381 0.00002
NM_001453.3(FOXC1):c.1246C>T (p.Pro416Ser) rs772035500 0.00002
NM_001453.3(FOXC1):c.1370A>G (p.Gln457Arg) rs908841297 0.00002
NM_001453.3(FOXC1):c.169C>T (p.Pro57Ser) rs1032706802 0.00002
NM_001453.3(FOXC1):c.820C>T (p.Pro274Ser) rs769224835 0.00002
NM_001453.3(FOXC1):c.869C>T (p.Ser290Phe) rs775681400 0.00002
NM_018699.4(PRDM5):c.877A>G (p.Lys293Glu) rs779601690 0.00002
NM_153427.2(PITX2):c.-1422C>A rs1423855887 0.00002
NM_153427.3(PITX2):c.-53G>A rs1388707841 0.00002
NM_000325.6(PITX2):c.*611A>G rs886059002 0.00001
NM_000325.6(PITX2):c.282G>T (p.Arg94=) rs768386257 0.00001
NM_000325.6(PITX2):c.412-7C>T rs762349019 0.00001
NM_000325.6(PITX2):c.916G>A (p.Val306Met) rs760790139 0.00001
NM_000325.6(PITX2):c.941G>A (p.Ser314Asn) rs571758306 0.00001
NM_001453.3(FOXC1):c.1015T>C (p.Ser339Pro) rs1422224202 0.00001
NM_001453.3(FOXC1):c.1090C>T (p.Pro364Ser) rs867806300 0.00001
NM_001453.3(FOXC1):c.1337_1338insTGG (p.Gly456dup) rs1762557230 0.00001
NM_001453.3(FOXC1):c.32A>G (p.Asn11Ser) rs1311597906 0.00001
NM_001453.3(FOXC1):c.356A>G (p.Lys119Arg) rs759264099 0.00001
NM_001453.3(FOXC1):c.363C>T (p.Gly121=) rs752309038 0.00001
NM_001453.3(FOXC1):c.37C>G (p.Leu13Val) rs1245309163 0.00001
NM_001453.3(FOXC1):c.486C>G (p.Phe162Leu) rs1581373871 0.00001
NM_001453.3(FOXC1):c.571C>T (p.Leu191Phe) rs1762529243 0.00001
NM_001453.3(FOXC1):c.605C>A (p.Pro202Gln) rs1288507437 0.00001
NM_001453.3(FOXC1):c.646C>A (p.Pro216Thr) rs1419864390 0.00001
NM_001453.3(FOXC1):c.673G>A (p.Asp225Asn) rs747618420 0.00001
NM_001453.3(FOXC1):c.695C>T (p.Thr232Met) rs1762534255 0.00001
NM_001453.3(FOXC1):c.746G>T (p.Gly249Val) rs936269544 0.00001
NM_001453.3(FOXC1):c.836C>T (p.Ser279Leu) rs1255472143 0.00001
NM_001453.3(FOXC1):c.886G>T (p.Ala296Ser) rs1331057949 0.00001
NM_001453.3(FOXC1):c.986G>C (p.Ser329Thr) rs748832697 0.00001
NM_153427.2(PITX2):c.-1411C>T rs1256005721 0.00001
NM_153427.2(PITX2):c.-1491G>A rs888167422 0.00001
NM_153427.2(PITX2):c.-483C>T rs1729689311 0.00001
NM_153427.2(PITX2):c.-966A>G rs1049702206 0.00001
NC_000006.11:g.(?_1610681)_(1612342_?)dup
NM_000325.6(PITX2):c.*119T>A rs765040142
NM_000325.6(PITX2):c.*173G>A rs1728830475
NM_000325.6(PITX2):c.*370G>C rs886059005
NM_000325.6(PITX2):c.*373GTT[1] rs886059004
NM_000325.6(PITX2):c.*696A>C rs1728803615
NM_000325.6(PITX2):c.242T>G (p.Val81Gly)
NM_000325.6(PITX2):c.287_288delinsCA (p.Arg96Pro)
NM_000325.6(PITX2):c.376G>A (p.Ala126Thr) rs2110435645
NM_000325.6(PITX2):c.412-11del rs886059007
NM_000325.6(PITX2):c.425A>G (p.Asn142Ser)
NM_000325.6(PITX2):c.430C>G (p.Arg144Gly) rs1057519485
NM_000325.6(PITX2):c.431G>A (p.Arg144Gln) rs104893859
NM_000325.6(PITX2):c.433G>C (p.Ala145Pro) rs1057519486
NM_000325.6(PITX2):c.517C>T (p.Pro173Ser)
NM_000325.6(PITX2):c.695G>A (p.Ser232Asn) rs746908680
NM_000325.6(PITX2):c.697A>G (p.Met233Val)
NM_001453.3(FOXC1):c.1004C>T (p.Ser335Leu)
NM_001453.3(FOXC1):c.1007C>T (p.Ala336Val)
NM_001453.3(FOXC1):c.1022G>A (p.Arg341His)
NM_001453.3(FOXC1):c.1027G>A (p.Gly343Arg)
NM_001453.3(FOXC1):c.1039C>T (p.Pro347Ser)
NM_001453.3(FOXC1):c.103G>A (p.Gly35Ser) rs888646491
NM_001453.3(FOXC1):c.1040C>G (p.Pro347Arg)
NM_001453.3(FOXC1):c.1040C>T (p.Pro347Leu)
NM_001453.3(FOXC1):c.1051G>A (p.Gly351Ser)
NM_001453.3(FOXC1):c.1051G>C (p.Gly351Arg) rs897755884
NM_001453.3(FOXC1):c.1063C>T (p.Pro355Ser)
NM_001453.3(FOXC1):c.1076C>T (p.Ser359Phe)
NM_001453.3(FOXC1):c.1078C>T (p.Leu360Phe)
NM_001453.3(FOXC1):c.107G>A (p.Gly36Asp)
NM_001453.3(FOXC1):c.108C>G (p.Gly36=)
NM_001453.3(FOXC1):c.1091C>T (p.Pro364Leu)
NM_001453.3(FOXC1):c.1097G>T (p.Ser366Ile)
NM_001453.3(FOXC1):c.1111_1119dup (p.Ser373_Ser374insAlaGlySer)
NM_001453.3(FOXC1):c.1124GCG[3] (p.Gly378_Gly380del) rs76840944
NM_001453.3(FOXC1):c.1124GCG[4] (p.Gly379_Gly380del) rs76840944
NM_001453.3(FOXC1):c.1124GCG[5] (p.Gly380del) rs76840944
NM_001453.3(FOXC1):c.1124GCG[8] (p.Gly379_Gly380dup) rs76840944
NM_001453.3(FOXC1):c.1124GCG[9] (p.Gly378_Gly380dup) rs76840944
NM_001453.3(FOXC1):c.1137C>G (p.Gly379=)
NM_001453.3(FOXC1):c.1145G>A (p.Gly382Glu)
NM_001453.3(FOXC1):c.1148C>G (p.Ala383Gly)
NM_001453.3(FOXC1):c.1148_1156del (p.Ala383_Gly385del) rs975290027
NM_001453.3(FOXC1):c.1155_1163del (p.386GAG[1])
NM_001453.3(FOXC1):c.1157G>C (p.Gly386Ala) rs1411477778
NM_001453.3(FOXC1):c.1159G>C (p.Ala387Pro)
NM_001453.3(FOXC1):c.115G>T (p.Ala39Ser)
NM_001453.3(FOXC1):c.1161_1169dup (p.386GAG[3]) rs1462344492
NM_001453.3(FOXC1):c.1174A>G (p.Thr392Ala)
NM_001453.3(FOXC1):c.1175C>T (p.Thr392Ile)
NM_001453.3(FOXC1):c.1181A>G (p.His394Arg)
NM_001453.3(FOXC1):c.1207T>C (p.Tyr403His)
NM_001453.3(FOXC1):c.1228G>T (p.Gly410Cys)
NM_001453.3(FOXC1):c.122C>G (p.Pro41Arg)
NM_001453.3(FOXC1):c.1231C>T (p.His411Tyr) rs2113114171
NM_001453.3(FOXC1):c.1231_1254del (p.His411_Gly418del)
NM_001453.3(FOXC1):c.1235T>G (p.Leu412Trp)
NM_001453.3(FOXC1):c.1253G>C (p.Gly418Ala)
NM_001453.3(FOXC1):c.1253G>T (p.Gly418Val) rs1056318557
NM_001453.3(FOXC1):c.1262G>A (p.Gly421Asp)
NM_001453.3(FOXC1):c.1265C>T (p.Ser422Leu)
NM_001453.3(FOXC1):c.1288G>A (p.Asp430Asn) rs2113114322
NM_001453.3(FOXC1):c.1290C>T (p.Asp430=)
NM_001453.3(FOXC1):c.129C>T (p.Pro43=)
NM_001453.3(FOXC1):c.1300C>T (p.Pro434Ser)
NM_001453.3(FOXC1):c.1304C>G (p.Pro435Arg)
NM_001453.3(FOXC1):c.1323GTC[1] (p.Ser443del) rs1208223684
NM_001453.3(FOXC1):c.1336C>G (p.His446Asp) rs2113114444
NM_001453.3(FOXC1):c.1337_1339del (p.His446_Gly447delinsArg)
NM_001453.3(FOXC1):c.1345G>A (p.Gly449Ser)
NM_001453.3(FOXC1):c.134G>A (p.Ser45Asn)
NM_001453.3(FOXC1):c.1351_1352insCCG (p.Gly450_Gly451insAla) rs1203559520
NM_001453.3(FOXC1):c.1390G>A (p.Ala464Thr)
NM_001453.3(FOXC1):c.1394C>G (p.Ala465Gly)
NM_001453.3(FOXC1):c.1399C>G (p.Gln467Glu)
NM_001453.3(FOXC1):c.1437C>T (p.Gly479=)
NM_001453.3(FOXC1):c.1454T>C (p.Leu485Ser)
NM_001453.3(FOXC1):c.1464GGC[7] (p.Ala495dup) rs747574884
NM_001453.3(FOXC1):c.1464GGC[8] (p.Ala495_Gly496insAlaAla)
NM_001453.3(FOXC1):c.1482_1484dup (p.Ala495_Gly496insAla)
NM_001453.3(FOXC1):c.1483G>A (p.Ala495Thr)
NM_001453.3(FOXC1):c.148C>T (p.Pro50Ser)
NM_001453.3(FOXC1):c.1492C>T (p.Pro498Ser)
NM_001453.3(FOXC1):c.1496G>C (p.Gly499Ala)
NM_001453.3(FOXC1):c.155A>G (p.His52Arg)
NM_001453.3(FOXC1):c.1573G>A (p.Gly525Arg)
NM_001453.3(FOXC1):c.1596_1623del (p.Phe533fs) rs1762565496
NM_001453.3(FOXC1):c.1600C>T (p.Pro534Ser) rs1481638796
NM_001453.3(FOXC1):c.1612T>C (p.Ser538Pro)
NM_001453.3(FOXC1):c.1631G>A (p.Gly544Glu)
NM_001453.3(FOXC1):c.175G>A (p.Gly59Ser)
NM_001453.3(FOXC1):c.182C>T (p.Ala61Val)
NM_001453.3(FOXC1):c.184C>T (p.Arg62Cys)
NM_001453.3(FOXC1):c.185G>A (p.Arg62His)
NM_001453.3(FOXC1):c.205C>G (p.Pro69Ala) rs1762519905
NM_001453.3(FOXC1):c.206C>T (p.Pro69Leu)
NM_001453.3(FOXC1):c.223G>A (p.Asp75Asn)
NM_001453.3(FOXC1):c.235C>T (p.Pro79Ser) rs1554100945
NM_001453.3(FOXC1):c.262A>C (p.Thr88Pro) rs1762520834
NM_001453.3(FOXC1):c.268G>A (p.Ala90Thr) rs1057519473
NM_001453.3(FOXC1):c.269C>A (p.Ala90Asp) rs1057519474
NM_001453.3(FOXC1):c.281C>T (p.Ala94Val)
NM_001453.3(FOXC1):c.284C>T (p.Pro95Leu)
NM_001453.3(FOXC1):c.297C>G (p.Ile99Met)
NM_001453.3(FOXC1):c.307G>C (p.Gly103Arg)
NM_001453.3(FOXC1):c.311T>C (p.Ile104Thr)
NM_001453.3(FOXC1):c.325A>G (p.Met109Val)
NM_001453.3(FOXC1):c.327G>A (p.Met109Ile) rs748064350
NM_001453.3(FOXC1):c.344A>G (p.Tyr115Cys) rs1581373749
NM_001453.3(FOXC1):c.34T>A (p.Ser12Thr)
NM_001453.3(FOXC1):c.36C>G (p.Ser12=)
NM_001453.3(FOXC1):c.372C>G (p.Asn124Lys) rs1762523183
NM_001453.3(FOXC1):c.387C>A (p.Asn129Lys) rs751776784
NM_001453.3(FOXC1):c.395T>C (p.Leu132Pro)
NM_001453.3(FOXC1):c.39G>A (p.Leu13=)
NM_001453.3(FOXC1):c.403T>A (p.Cys135Ser)
NM_001453.3(FOXC1):c.418C>T (p.Pro140Ser) rs777521814
NM_001453.3(FOXC1):c.41G>A (p.Gly14Glu)
NM_001453.3(FOXC1):c.440G>T (p.Gly147Val)
NM_001453.3(FOXC1):c.447C>T (p.Gly149=)
NM_001453.3(FOXC1):c.457A>C (p.Thr153Pro) rs1057519476
NM_001453.3(FOXC1):c.476ACA[1] (p.Asn160del) rs2113111795
NM_001453.3(FOXC1):c.493G>C (p.Gly165Arg)
NM_001453.3(FOXC1):c.49C>T (p.Pro17Ser)
NM_001453.3(FOXC1):c.505C>G (p.Arg169Gly)
NM_001453.3(FOXC1):c.509G>A (p.Arg170Gln) rs2113111855
NM_001453.3(FOXC1):c.523AAG[2] (p.Lys177del)
NM_001453.3(FOXC1):c.536C>G (p.Ala179Gly) rs752984586
NM_001453.3(FOXC1):c.536C>T (p.Ala179Val)
NM_001453.3(FOXC1):c.548A>G (p.Lys183Arg)
NM_001453.3(FOXC1):c.550GAG[1] (p.Glu185del) rs774823663
NM_001453.3(FOXC1):c.553G>C (p.Glu185Gln)
NM_001453.3(FOXC1):c.556A>G (p.Lys186Glu)
NM_001453.3(FOXC1):c.556_558del (p.Lys186del) rs1486212361
NM_001453.3(FOXC1):c.559G>A (p.Asp187Asn)
NM_001453.3(FOXC1):c.562A>G (p.Arg188Gly)
NM_001453.3(FOXC1):c.566T>A (p.Leu189Gln) rs1227876001
NM_001453.3(FOXC1):c.577G>A (p.Glu193Lys)
NM_001453.3(FOXC1):c.587C>T (p.Pro196Leu)
NM_001453.3(FOXC1):c.58G>A (p.Gly20Ser)
NM_001453.3(FOXC1):c.593_610del (p.Gly198_Pro203del) rs567719270
NM_001453.3(FOXC1):c.602C>A (p.Pro201His) rs1762531102
NM_001453.3(FOXC1):c.603_614del (p.Pro203_Pro206del) rs1762531002
NM_001453.3(FOXC1):c.608C>T (p.Pro203Leu)
NM_001453.3(FOXC1):c.609_614del (p.Ala204_Pro205del)
NM_001453.3(FOXC1):c.614C>T (p.Pro205Leu)
NM_001453.3(FOXC1):c.617C>G (p.Pro206Arg) rs1245295588
NM_001453.3(FOXC1):c.61G>T (p.Gly21Cys) rs932770511
NM_001453.3(FOXC1):c.623A>G (p.Gln208Arg)
NM_001453.3(FOXC1):c.632G>A (p.Gly211Asp)
NM_001453.3(FOXC1):c.642C>A (p.Pro214=)
NM_001453.3(FOXC1):c.647C>A (p.Pro216Gln) rs1762532606
NM_001453.3(FOXC1):c.652C>T (p.Pro218Ser)
NM_001453.3(FOXC1):c.655C>T (p.Pro219Ser) rs746629785
NM_001453.3(FOXC1):c.683C>T (p.Thr228Ile)
NM_001453.3(FOXC1):c.725C>T (p.Pro242Leu)
NM_001453.3(FOXC1):c.730G>A (p.Ala244Thr)
NM_001453.3(FOXC1):c.733G>A (p.Ala245Thr)
NM_001453.3(FOXC1):c.735_758del (p.Leu246_Ala253del)
NM_001453.3(FOXC1):c.735_758dup (p.Ala253_Val254insLeuGlySerGlySerAlaAlaAla)
NM_001453.3(FOXC1):c.736_759del (p.Leu246_Ala253del)
NM_001453.3(FOXC1):c.740_754del (p.Gly247_Ala251del)
NM_001453.3(FOXC1):c.745G>C (p.Gly249Arg)
NM_001453.3(FOXC1):c.750C>G (p.Ser250Arg)
NM_001453.3(FOXC1):c.751G>A (p.Ala251Thr)
NM_001453.3(FOXC1):c.754G>A (p.Ala252Thr) rs2113112550
NM_001453.3(FOXC1):c.755C>T (p.Ala252Val) rs1259243589
NM_001453.3(FOXC1):c.756C>T (p.Ala252=)
NM_001453.3(FOXC1):c.768G>T (p.Lys256Asn)
NM_001453.3(FOXC1):c.778C>G (p.Pro260Ala)
NM_001453.3(FOXC1):c.782A>G (p.Asp261Gly)
NM_001453.3(FOXC1):c.784AGC[3] (p.Ser265_Ser266del) rs761199025
NM_001453.3(FOXC1):c.784AGC[6] (p.Ser266dup) rs761199025
NM_001453.3(FOXC1):c.785G>A (p.Ser262Asn)
NM_001453.3(FOXC1):c.802_803delinsCA (p.Ser268His) rs2113112684
NM_001453.3(FOXC1):c.816C>A (p.Ser272Arg)
NM_001453.3(FOXC1):c.818C>T (p.Pro273Leu)
NM_001453.3(FOXC1):c.868T>G (p.Ser290Ala)
NM_001453.3(FOXC1):c.869C>A (p.Ser290Tyr) rs775681400
NM_001453.3(FOXC1):c.895G>A (p.Ala299Thr)
NM_001453.3(FOXC1):c.926_940del (p.Ser309_Ile313del) rs774848608
NM_001453.3(FOXC1):c.927C>A (p.Ser309Arg) rs1762541775
NM_001453.3(FOXC1):c.934A>G (p.Asn312Asp)
NM_001453.3(FOXC1):c.955G>A (p.Gly319Arg)
NM_001453.3(FOXC1):c.961C>T (p.Pro321Ser)
NM_001453.3(FOXC1):c.962C>T (p.Pro321Leu)
NM_001453.3(FOXC1):c.976G>T (p.Ala326Ser)
NM_001453.3(FOXC1):c.979G>A (p.Glu327Lys) rs2113113220
NM_001453.3(FOXC1):c.991G>A (p.Gly331Ser) rs1242365822
NM_001453.3(FOXC1):c.991G>C (p.Gly331Arg)
NM_001453.3(FOXC1):c.995T>C (p.Leu332Pro)
NM_153427.2(PITX2):c.-1078C>A rs1309981396
NM_153427.2(PITX2):c.-1209C>T rs563409386
NM_153427.2(PITX2):c.-245G>A rs1729676876
NM_153427.2(PITX2):c.-300A>T rs1188264847
NM_153427.2(PITX2):c.-429C>G rs985015612
NM_153427.2(PITX2):c.-515C>T rs904945318
NM_153427.2(PITX2):c.-670C>T rs1017565030

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