List of variants in gene PAX6 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001368894.2(PAX6):c.985T>C (p.Leu329=)	rs373147550	0.00024
NM_001368894.2(PAX6):c.807+5C>T	rs376564909	0.00014
NM_001368894.2(PAX6):c.465C>G (p.Gly155=)	rs139803630	0.00009
NM_001368894.2(PAX6):c.1074+6T>C
NM_001368894.2(PAX6):c.1075-4A>T	rs1592370421
NM_001368894.2(PAX6):c.295A>G (p.Ser99Gly)
NM_001368894.2(PAX6):c.308A>C (p.Gln103Pro)	rs1167005463
NM_001368894.2(PAX6):c.630T>G (p.Asp210Glu)
NM_001368894.2(PAX6):c.999C>G (p.Asp333Glu)	rs184589894

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