ClinVar Miner

List of variants in gene PAX6 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.-107C>T rs111270711 0.00117
NM_001368894.2(PAX6):c.141+55G>A rs571151963 0.00101
NM_001368894.2(PAX6):c.873G>A (p.Gln291=) rs149053004 0.00075
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.807+5C>T rs376564909 0.00014
NM_001368894.2(PAX6):c.465C>G (p.Gly155=) rs139803630 0.00009
NM_001368894.2(PAX6):c.958+4A>T rs765926181 0.00008
NM_001368894.2(PAX6):c.537G>C (p.Gly179=) rs374226064 0.00003
NM_001368894.2(PAX6):c.501C>T (p.Thr167=) rs201200280 0.00001
NM_001368894.2(PAX6):c.1074+1G>A rs1950507886
NM_001368894.2(PAX6):c.1074+6T>C
NM_001368894.2(PAX6):c.1075-4A>T rs1592370421
NM_001368894.2(PAX6):c.11-753G>A
NM_001368894.2(PAX6):c.1130C>A (p.Ser377Ter) rs1411880763
NM_001368894.2(PAX6):c.193G>A (p.Gly65Arg) rs1131692293
NM_001368894.2(PAX6):c.295A>G (p.Ser99Gly)
NM_001368894.2(PAX6):c.308A>C (p.Gln103Pro) rs1167005463
NM_001368894.2(PAX6):c.399+1G>A rs398123295
NM_001368894.2(PAX6):c.425G>T (p.Arg142Leu) rs1592531953
NM_001368894.2(PAX6):c.630T>G (p.Asp210Glu)
NM_001368894.2(PAX6):c.724G>A (p.Glu242Lys) rs1592432969
NM_001368894.2(PAX6):c.844_845dup (p.Glu283fs)
NM_001368894.2(PAX6):c.991C>T (p.Arg331Ter) rs1057517785
NM_001368894.2(PAX6):c.999C>G (p.Asp333Glu) rs184589894

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