ClinVar Miner

List of variants in gene ELP4, PAX6 studied for Irido-corneo-trabecular dysgenesis

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_019040.5(ELP4):c.*3514_*3517dup rs397795797 0.87931
NM_019040.5(ELP4):c.*2673_*2674del rs141022497 0.02792
NM_019040.5(ELP4):c.*3523del rs886048188 0.00050
NM_019040.5(ELP4):c.*3859G>A rs886048190 0.00001
NM_019040.5(ELP4):c.*4023C>A rs886048194 0.00001
NM_001368894.2(PAX6):c.*183dup rs886048200
NM_001368894.2(PAX6):c.*356del rs200391530
NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG rs886048180
NM_019040.5(ELP4):c.*2710CA[2] rs886048186
NM_019040.5(ELP4):c.*3164_*3165insAAAA rs34919147
NM_019040.5(ELP4):c.*3703_*3705del rs886048189

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