List of variants in gene combination ELP4, PAX6 reported as uncertain significance for Irido-corneo-trabecular dysgenesis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000280.4(PAX6):c.*2887delG	rs886048188	0.00050
NM_000280.4(PAX6):c.*2387G>T	rs886048194	0.00001
NM_000280.4(PAX6):c.*2551C>T	rs886048190	0.00001
NM_000280.4(PAX6):c.2705_2707delAGC	rs886048189
NM_000280.4(PAX6):c.3700_3701delGT	rs886048186
NM_000280.4(PAX6):c.4919_4921delATTinsCACAGATTAAAAGAAATG	rs886048180
NM_001368894.2(PAX6):c.*183dup	rs886048200
NM_001368894.2(PAX6):c.*356del	rs200391530

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