ClinVar Miner

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

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.1074+3_1074+6del rs2134572801
NM_001368894.2(PAX6):c.109G>C (p.Ala37Pro)
NM_001368894.2(PAX6):c.113G>A (p.Arg38Gln)
NM_001368894.2(PAX6):c.113G>C (p.Arg38Pro)
NM_001368894.2(PAX6):c.1225+5G>T
NM_001368894.2(PAX6):c.198T>G (p.Cys66Trp)
NM_001368894.2(PAX6):c.199G>C (p.Val67Leu)
NM_001368894.2(PAX6):c.260G>A (p.Gly87Asp) rs2135097306
NM_001368894.2(PAX6):c.269C>A (p.Pro90Gln) rs2135096558
NM_001368894.2(PAX6):c.269C>T (p.Pro90Leu) rs2135096558
NM_001368894.2(PAX6):c.337G>A (p.Ala113Thr)
NM_001368894.2(PAX6):c.419T>A (p.Val140Asp) rs121907919
NM_001368894.2(PAX6):c.52G>T (p.Gly18Trp)
NM_001368894.2(PAX6):c.674A>G (p.Gln225Arg) rs1592433640
NM_001368894.2(PAX6):c.724+1G>A
NM_001368894.2(PAX6):c.745C>A (p.Pro249Thr)
NM_001368894.2(PAX6):c.807G>A (p.Gln269=)
NM_001368894.2(PAX6):c.824G>A (p.Arg275Gln) rs1950629763
NM_001368894.2(PAX6):c.86T>C (p.Ile29Thr)
NM_001368894.2(PAX6):c.959-3C>G rs1057523821
NM_001368894.2(PAX6):c.959-3_959-2del

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