List of variants in gene PAX6 reported as uncertain significance for Aniridia 1

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.-125dup
NM_001368894.2(PAX6):c.1074+3A>G	rs1592409561
NM_001368894.2(PAX6):c.1211_1225+1del
NM_001368894.2(PAX6):c.1225+4dup	rs1592366970
NM_001368894.2(PAX6):c.297C>T (p.Ser99=)	rs1064793223
NM_001368894.2(PAX6):c.399+136G>A	rs1565237004
NM_001368894.2(PAX6):c.399+334G>A	rs1565236383
NM_001368894.2(PAX6):c.724+4del	rs1131692311

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