ClinVar Miner

List of variants in gene PAX6 reported as benign for not specified

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
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.130C>A (p.Arg44=) rs141873759 0.00175
NM_001368894.2(PAX6):c.435T>C (p.Ala145=) rs374436481 0.00001
NM_001368894.2(PAX6):c.142-52del rs145866071
NM_001368894.2(PAX6):c.400-15_400-5del rs758179195

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