ClinVar Miner

List of variants reported as likely benign for aniridia

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 164
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.-129+9G>A rs56139994 0.02711
NM_001368894.2(PAX6):c.369G>A (p.Glu123=) rs114384476 0.01168
NM_000280.4(PAX6):c.*2416G>T rs79739975 0.00857
NM_000280.4(PAX6):c.*2985G>A rs3026399 0.00813
NM_001368894.2(PAX6):c.-180A>G rs75563367 0.00766
NM_000280.4(PAX6):c.*2697T>A rs138881442 0.00236
NM_000280.4(PAX6):c.*1478C>T rs181818313 0.00198
NM_000280.4(PAX6):c.*4370C>G rs183115097 0.00194
NM_000280.4(PAX6):c.*5108A>G rs146579778 0.00120
NM_000280.4(PAX6):c.*3885G>T rs183433948 0.00096
NM_000280.4(PAX6):c.*3428C>T rs191399467 0.00076
NM_024426.6(WT1):c.1161A>G (p.Ala387=) rs141834493 0.00051
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=) rs143477661 0.00038
NM_001368894.2(PAX6):c.753G>A (p.Val251=) rs145329506 0.00038
NM_001368894.2(PAX6):c.985T>C (p.Leu329=) rs373147550 0.00024
NM_000280.4(PAX6):c.*2977C>A rs192709453 0.00019
NM_000280.4(PAX6):c.*3027G>A rs541022955 0.00017
NM_001368894.2(PAX6):c.-118T>C rs992201562 0.00016
NM_001368894.2(PAX6):c.807+5C>T rs376564909 0.00014
NM_000280.4(PAX6):c.*1604A>T rs189545730 0.00011
NM_001368894.2(PAX6):c.10+17T>C rs766982377 0.00011
NM_001368894.2(PAX6):c.1023C>T (p.Ser341=) rs139416026 0.00011
NM_024426.6(WT1):c.1264+19C>T rs2234592 0.00010
NM_024426.6(WT1):c.849C>T (p.Thr283=) rs145425799 0.00010
NM_001368894.2(PAX6):c.465C>G (p.Gly155=) rs139803630 0.00009
NM_000280.4(PAX6):c.*1287A>T rs576321279 0.00008
NM_001368894.2(PAX6):c.11-12C>G rs766046559 0.00008
NM_024426.6(WT1):c.887+14G>A rs757237600 0.00008
NM_001368894.2(PAX6):c.462C>T (p.Asp154=) rs1800427 0.00006
NM_001368894.2(PAX6):c.438C>T (p.Ser146=) rs146769256 0.00005
NM_001368894.2(PAX6):c.699A>G (p.Gln233=) rs539046948 0.00005
NM_001368894.2(PAX6):c.1074+9G>A rs376883598 0.00004
NM_024426.6(WT1):c.1016+15C>T rs752756426 0.00004
NM_001368894.2(PAX6):c.276A>G (p.Val92=) rs750195797 0.00003
NM_001368894.2(PAX6):c.405A>G (p.Ser135=) rs760926425 0.00003
NM_001368894.2(PAX6):c.537G>C (p.Gly179=) rs374226064 0.00003
NM_001368894.2(PAX6):c.959-20G>A rs751109356 0.00003
NM_024426.6(WT1):c.1038C>T (p.Ser346=) rs750018485 0.00003
NM_001368894.2(PAX6):c.1131G>A (p.Ser377=) rs369447790 0.00002
NM_001368894.2(PAX6):c.717G>A (p.Leu239=) rs766564648 0.00002
NM_001368894.2(PAX6):c.1020C>T (p.Tyr340=) rs786205467 0.00001
NM_001368894.2(PAX6):c.1068T>G (p.Pro356=) rs1185901527 0.00001
NM_001368894.2(PAX6):c.1098C>T (p.Ser366=) rs1949682214 0.00001
NM_001368894.2(PAX6):c.11-10C>G rs762637284 0.00001
NM_001368894.2(PAX6):c.1164C>T (p.Pro388=) rs764134540 0.00001
NM_001368894.2(PAX6):c.1194G>A (p.Gln398=) rs766842413 0.00001
NM_001368894.2(PAX6):c.1242T>G (p.Gly414=) rs372956285 0.00001
NM_001368894.2(PAX6):c.184-4G>T rs761362173 0.00001
NM_001368894.2(PAX6):c.184-9C>G rs764872492 0.00001
NM_001368894.2(PAX6):c.501C>T (p.Thr167=) rs201200280 0.00001
NM_001368894.2(PAX6):c.525T>A (p.Gly175=) rs1315078444 0.00001
NM_001368894.2(PAX6):c.561G>A (p.Thr187=) rs771257263 0.00001
NM_001368894.2(PAX6):c.622G>A (p.Gly208Arg) rs374396492 0.00001
NM_001368894.2(PAX6):c.658C>T (p.Leu220=) rs778895282 0.00001
NM_001368894.2(PAX6):c.702G>A (p.Glu234=) rs755018027 0.00001
NM_001368894.2(PAX6):c.768A>G (p.Arg256=) rs757591036 0.00001
NM_001368894.2(PAX6):c.972A>T (p.Thr324=) rs779631884 0.00001
NM_024426.6(WT1):c.115C>A (p.Arg39=) rs763147828 0.00001
NM_024426.6(WT1):c.27G>A (p.Pro9=) rs556835183 0.00001
NM_024426.6(WT1):c.945C>T (p.Asn315=) rs775085343 0.00001
NM_000280.4(PAX6):c.*2159C>T rs3026396
NM_000280.4(PAX6):c.*4599T>G rs185968715
NM_001042413.2(GLIS3):c.2710G>C (p.Gly904Arg) rs150310830
NM_001173464.2(KIF21A):c.2287G>A (p.Val763Met) rs869025264
NM_001368894.2(PAX6):c.10+11C>A
NM_001368894.2(PAX6):c.10+13G>A
NM_001368894.2(PAX6):c.10+20C>T
NM_001368894.2(PAX6):c.10+7G>A rs2135296029
NM_001368894.2(PAX6):c.10+7G>T rs2135296029
NM_001368894.2(PAX6):c.1003G>A (p.Ala335Thr)
NM_001368894.2(PAX6):c.1017C>T (p.Thr339=)
NM_001368894.2(PAX6):c.1029G>T (p.Leu343=)
NM_001368894.2(PAX6):c.1041C>T (p.Pro347=)
NM_001368894.2(PAX6):c.1074+16G>A
NM_001368894.2(PAX6):c.1074+8C>T
NM_001368894.2(PAX6):c.1075-3C>A
NM_001368894.2(PAX6):c.1075-8C>T
NM_001368894.2(PAX6):c.11-19C>T
NM_001368894.2(PAX6):c.11-20T>C
NM_001368894.2(PAX6):c.11-24_11-20dup rs2135156050
NM_001368894.2(PAX6):c.11-4T>A
NM_001368894.2(PAX6):c.1101A>G (p.Ser367=) rs1328757289
NM_001368894.2(PAX6):c.1119C>A (p.Pro373=)
NM_001368894.2(PAX6):c.1161C>G (p.Thr387=)
NM_001368894.2(PAX6):c.117G>T (p.Pro39=) rs919486001
NM_001368894.2(PAX6):c.1209G>A (p.Ser403=)
NM_001368894.2(PAX6):c.1221A>C (p.Ser407=) rs1949622831
NM_001368894.2(PAX6):c.1225+11G>A
NM_001368894.2(PAX6):c.1226-13C>T rs2134386969
NM_001368894.2(PAX6):c.1226-4C>G rs11031477
NM_001368894.2(PAX6):c.1226-7C>T
NM_001368894.2(PAX6):c.1230C>A (p.Leu410=) rs776244636
NM_001368894.2(PAX6):c.1266C>T (p.Pro422=)
NM_001368894.2(PAX6):c.1287T>G (p.Ser429=)
NM_001368894.2(PAX6):c.1293C>T (p.Tyr431=)
NM_001368894.2(PAX6):c.141+11C>G
NM_001368894.2(PAX6):c.141+18G>A
NM_001368894.2(PAX6):c.141+19C>T
NM_001368894.2(PAX6):c.141+9C>G rs1194088876
NM_001368894.2(PAX6):c.184-5T>C
NM_001368894.2(PAX6):c.211C>T (p.Leu71=)
NM_001368894.2(PAX6):c.225C>T (p.Tyr75=)
NM_001368894.2(PAX6):c.237C>T (p.Ser79=)
NM_001368894.2(PAX6):c.255C>T (p.Ile85=)
NM_001368894.2(PAX6):c.270G>A (p.Pro90=)
NM_001368894.2(PAX6):c.279G>A (p.Ala93=)
NM_001368894.2(PAX6):c.306C>G (p.Ala102=) rs1160160301
NM_001368894.2(PAX6):c.318G>A (p.Arg106=) rs1953919512
NM_001368894.2(PAX6):c.339T>C (p.Ala113=)
NM_001368894.2(PAX6):c.33C>T (p.Leu11=)
NM_001368894.2(PAX6):c.349C>A (p.Arg117=) rs121907914
NM_001368894.2(PAX6):c.357A>G (p.Arg119=)
NM_001368894.2(PAX6):c.366C>G (p.Ser122=)
NM_001368894.2(PAX6):c.373G>T (p.Val125Phe)
NM_001368894.2(PAX6):c.399+10_399+11del rs2135085957
NM_001368894.2(PAX6):c.399+18A>G
NM_001368894.2(PAX6):c.399+9A>G
NM_001368894.2(PAX6):c.400-15_400-5del rs758179195
NM_001368894.2(PAX6):c.400-18T>G
NM_001368894.2(PAX6):c.411A>T (p.Ile137=)
NM_001368894.2(PAX6):c.42C>T (p.Val14=)
NM_001368894.2(PAX6):c.456C>T (p.Gly152=) rs1304237286
NM_001368894.2(PAX6):c.463G>A (p.Gly155Ser)
NM_001368894.2(PAX6):c.492C>T (p.Asn164=)
NM_001368894.2(PAX6):c.495G>T (p.Gly165=)
NM_001368894.2(PAX6):c.534G>A (p.Pro178=)
NM_001368894.2(PAX6):c.555A>G (p.Gln185=)
NM_001368894.2(PAX6):c.565+17C>T
NM_001368894.2(PAX6):c.566-41T>G
NM_001368894.2(PAX6):c.591G>A (p.Gly197=)
NM_001368894.2(PAX6):c.621C>T (p.Asn207=)
NM_001368894.2(PAX6):c.651A>G (p.Arg217=)
NM_001368894.2(PAX6):c.714C>T (p.Ala238=) rs1554983496
NM_001368894.2(PAX6):c.724+16A>G
NM_001368894.2(PAX6):c.724+7G>C
NM_001368894.2(PAX6):c.725-18A>G rs2134615673
NM_001368894.2(PAX6):c.725-19A>C rs369866279
NM_001368894.2(PAX6):c.72C>T (p.Ser24=)
NM_001368894.2(PAX6):c.735A>G (p.Arg245=)
NM_001368894.2(PAX6):c.741T>C (p.His247=)
NM_001368894.2(PAX6):c.762A>G (p.Arg254=)
NM_001368894.2(PAX6):c.798A>G (p.Ala266=)
NM_001368894.2(PAX6):c.807+14G>A rs1404270061
NM_001368894.2(PAX6):c.808-13A>G
NM_001368894.2(PAX6):c.808-15C>T
NM_001368894.2(PAX6):c.808-18G>A
NM_001368894.2(PAX6):c.808-19T>C
NM_001368894.2(PAX6):c.808-19del
NM_001368894.2(PAX6):c.831C>T (p.Ala277=)
NM_001368894.2(PAX6):c.882C>T (p.Asn294=)
NM_001368894.2(PAX6):c.918C>T (p.Ser306=)
NM_001368894.2(PAX6):c.951C>T (p.Thr317=)
NM_001368894.2(PAX6):c.958+18T>C
NM_001368894.2(PAX6):c.958+18T>G
NM_001368894.2(PAX6):c.960T>C (p.Val320=)
NM_001368894.2(PAX6):c.981C>T (p.Ser327=) rs1042417987
NM_001368894.2(PAX6):c.990C>A (p.Gly330=)
NM_001368894.2(PAX6):c.993A>G (p.Arg331=)
NM_024426.6(WT1):c.1448-10G>A rs185744719
NM_024426.6(WT1):c.543C>T (p.Arg181=) rs369870529
NM_024426.6(WT1):c.662-10G>T rs1554945255
NM_024426.6(WT1):c.708G>A (p.Thr236=) rs768828897
NM_024426.6(WT1):c.764T>A (p.Met255Lys) rs377573993
NM_024426.6(WT1):c.780G>A (p.Ser260=) rs1403311573

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