ClinVar Miner

List of variants in gene PAX6 reported as likely benign

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Gene type:
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Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.-129+9G>A rs56139994 0.02711
NM_001368894.2(PAX6):c.399+255A>G rs41275154 0.02233
NM_001368894.2(PAX6):c.369G>A (p.Glu123=) rs114384476 0.01168
NM_001368894.2(PAX6):c.-129+229G>C rs577333042 0.01018
NM_001368894.2(PAX6):c.142-149T>A rs563032643 0.00786
NM_001368894.2(PAX6):c.-180A>G rs75563367 0.00766
NM_001368894.2(PAX6):c.130C>A (p.Arg44=) rs141873759 0.00175
NM_001368894.2(PAX6):c.-107C>T rs111270711 0.00117
NM_001368894.2(PAX6):c.873G>A (p.Gln291=) rs149053004 0.00075
NM_001368894.2(PAX6):c.1032G>A (p.Pro344=) rs146261351 0.00048
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_001368894.2(PAX6):c.-118T>C rs992201562 0.00016
NM_001368894.2(PAX6):c.807+5C>T rs376564909 0.00014
NM_001368894.2(PAX6):c.10+17T>C rs766982377 0.00011
NM_001368894.2(PAX6):c.1023C>T (p.Ser341=) rs139416026 0.00011
NM_001368894.2(PAX6):c.465C>G (p.Gly155=) rs139803630 0.00009
NM_001368894.2(PAX6):c.11-12C>G rs766046559 0.00008
NM_001368894.2(PAX6):c.958+4A>T rs765926181 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_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.807+6G>A rs375134684 0.00003
NM_001368894.2(PAX6):c.959-20G>A rs751109356 0.00003
NM_001368894.2(PAX6):c.959-7C>T rs750093295 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.1215C>T (p.Thr405=) rs886038486 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.400-7T>C rs776848552 0.00001
NM_001368894.2(PAX6):c.435T>C (p.Ala145=) rs374436481 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_000280.4(PAX6):c.-125dup
NM_001368894.2(PAX6):c.-117dup rs1554986858
NM_001368894.2(PAX6):c.10+11C>A
NM_001368894.2(PAX6):c.10+13G>A
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+114C>T
NM_001368894.2(PAX6):c.1074+138T>C
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.11-20T>C
NM_001368894.2(PAX6):c.11-24_11-20dup rs2135156050
NM_001368894.2(PAX6):c.1101A>G (p.Ser367=) rs1328757289
NM_001368894.2(PAX6):c.1119C>A (p.Pro373=)
NM_001368894.2(PAX6):c.117G>C (p.Pro39=) rs919486001
NM_001368894.2(PAX6):c.117G>T (p.Pro39=) rs919486001
NM_001368894.2(PAX6):c.1221A>C (p.Ser407=) rs1949622831
NM_001368894.2(PAX6):c.141+19C>T
NM_001368894.2(PAX6):c.141+9C>G rs1194088876
NM_001368894.2(PAX6):c.142-142dup rs202204811
NM_001368894.2(PAX6):c.184-5T>C
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.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.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.534G>A (p.Pro178=)
NM_001368894.2(PAX6):c.555A>G (p.Gln185=)
NM_001368894.2(PAX6):c.561G>T (p.Thr187=) rs771257263
NM_001368894.2(PAX6):c.565+17C>T
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+14T>A
NM_001368894.2(PAX6):c.724+152TG[27] rs10525266
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.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.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.993A>G (p.Arg331=)

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