ClinVar Miner

List of variants in gene PAX6 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.256G>T (p.Gly86Cys) rs759557055 0.00001
NM_000280.6(PAX6):c.143T>C (p.Val48Ala) rs2135101631
NM_001368894.2(PAX6):c.1020C>G (p.Tyr340Ter) rs786205467
NM_001368894.2(PAX6):c.112C>G (p.Arg38Gly) rs397514640
NM_001368894.2(PAX6):c.1130C>A (p.Ser377Ter) rs1411880763
NM_001368894.2(PAX6):c.1166dup (p.His390fs) rs756801119
NM_001368894.2(PAX6):c.184G>T (p.Val62Leu)
NM_001368894.2(PAX6):c.188C>A (p.Ser63Tyr) rs1554985430
NM_001368894.2(PAX6):c.216C>T (p.Gly72=) rs763807196
NM_001368894.2(PAX6):c.219G>T (p.Arg73Ser)
NM_001368894.2(PAX6):c.220T>A (p.Tyr74Asn)
NM_001368894.2(PAX6):c.297C>T (p.Ser99=) rs1064793223
NM_001368894.2(PAX6):c.302T>G (p.Ile101Arg)
NM_001368894.2(PAX6):c.399C>A (p.Ser133Arg) rs121907928
NM_001368894.2(PAX6):c.407C>A (p.Ser136Ter) rs1554985100
NM_001368894.2(PAX6):c.425G>T (p.Arg142Leu) rs1592531953
NM_001368894.2(PAX6):c.528G>A (p.Trp176Ter) rs1057520755
NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg) rs886044289
NM_001368894.2(PAX6):c.724G>A (p.Glu242Lys) rs1592432969
NM_001368894.2(PAX6):c.959-1G>A rs1592412022
NM_001368894.2(PAX6):c.959-9T>A rs1057517784

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