List of variants in gene PAX6 reported as uncertain significance for chromosomal disorder

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001368894.2(PAX6):c.-59G>T	rs886048204	0.00001
NM_001368894.2(PAX6):c.-147_-146dup	rs886048205
NM_001368894.2(PAX6):c.184-8C>T	rs886048203
NM_001368894.2(PAX6):c.308A>C (p.Gln103Pro)	rs1167005463
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del)	rs747077748
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg)	rs886048202

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