List of variants reported as likely benign for aniridia 1 by Illumina Laboratory Services, Illumina

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_001368894.2(PAX6):c.-129+9G>A	rs56139994	0.02711
NM_001368894.2(PAX6):c.369G>A (p.Glu123=)	rs114384476	0.01168
NM_019040.5(ELP4):c.*3994C>A	rs79739975	0.00857
NM_019040.5(ELP4):c.*3425C>T	rs3026399	0.00813
NM_001368894.2(PAX6):c.-180A>G	rs75563367	0.00766
NM_019040.5(ELP4):c.*3713A>T	rs138881442	0.00236
NM_019040.5(ELP4):c.*4932G>A	rs181818313	0.00198
NM_019040.5(ELP4):c.*2040G>C	rs183115097	0.00194
NM_019040.5(ELP4):c.*1302T>C	rs146579778	0.00120
NM_019040.5(ELP4):c.*2525C>A	rs183433948	0.00096
NM_019040.5(ELP4):c.*2982G>A	rs191399467	0.00076
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)	rs143477661	0.00038
NM_001368894.2(PAX6):c.753G>A (p.Val251=)	rs145329506	0.00038
NM_019040.5(ELP4):c.*3433G>T	rs192709453	0.00019
NM_019040.5(ELP4):c.*3383C>T	rs541022955	0.00017
NM_019040.5(ELP4):c.*4806T>A	rs189545730	0.00011
NM_019040.5(ELP4):c.*5123T>A	rs576321279	0.00008
NM_019040.5(ELP4):c.*1811A>C	rs185968715
NM_019040.5(ELP4):c.*4251G>A	rs3026396

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