ClinVar Miner

List of variants in gene PAX6 reported by Genetics Department, University Hospital of Toulouse

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.-118_-117del rs1554986858
NM_001368894.2(PAX6):c.-129+1G>A rs1565277245
NM_001368894.2(PAX6):c.-52+3_-52+4del rs1565264399
NM_001368894.2(PAX6):c.-52+3_-52+6delinsTG rs1565264372
NM_001368894.2(PAX6):c.-52+5del rs1565264387
NM_001368894.2(PAX6):c.1017del (p.Tyr340fs)
NM_001368894.2(PAX6):c.142-3T>C
NM_001368894.2(PAX6):c.38G>C (p.Gly13Ala) rs1954548195
NM_001368894.2(PAX6):c.38_41delinsAATCAGC (p.Gly13_Val14delinsGluSerAla)
NM_001368894.2(PAX6):c.399+136G>A rs1565237004
NM_001368894.2(PAX6):c.399+334G>A rs1565236383
NM_001368894.2(PAX6):c.410T>A (p.Ile137Lys)
NM_001368894.2(PAX6):c.828G>C (p.Arg276Ser) rs1950628459

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