List of variants reported as likely pathogenic for Aniridia 1 by Eye & ENT Hospital, Shanghai Medical College, Fudan University

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001368894.2(PAX6):c.102_103del (p.His34fs)	rs2496294637
NM_001368894.2(PAX6):c.1196del (p.Pro399fs)	rs2494724434
NM_001368894.2(PAX6):c.140A>T (p.Gln47Leu)	rs1131692289
NM_001368894.2(PAX6):c.398del (p.Ser133fs)	rs2496117097
NM_001368894.2(PAX6):c.399+1_399+2insATAACA	rs2496115864
NM_001368894.2(PAX6):c.49_61del (p.Asn17fs)	rs2496302668
NM_001368894.2(PAX6):c.573C>A (p.Cys191Ter)	rs1554983586
NM_001368894.2(PAX6):c.62_65dup (p.Asp23fs)	rs1954534591
NM_001368894.2(PAX6):c.725-2A>G	rs2495180066
NM_001368894.2(PAX6):c.823dup (p.Arg275fs)	rs2495121695
NM_001368894.2(PAX6):c.850A>T (p.Lys284Ter)	rs201439078

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