List of variants in gene PAX6 reported as likely benign for corneal disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 106

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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_001368894.2(PAX6):c.-180A>G	rs75563367	0.00766
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)	rs143477661	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.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.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.959-20G>A	rs751109356	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.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_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+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.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.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+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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