List of variants in gene PAX6 reported as uncertain significance by Eurofins NTD LLC (GA)

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_001368894.2(PAX6):c.1032G>A (p.Pro344=)	rs146261351	0.00048
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)	rs143477661	0.00038
NM_001368894.2(PAX6):c.1075-3C>G	rs886044223
NM_001368894.2(PAX6):c.121G>C (p.Asp41His)	rs886044222
NM_001368894.2(PAX6):c.192C>A (p.Asn64Lys)	rs727504064
NM_001368894.2(PAX6):c.275T>C (p.Val92Ala)	rs886042622
NM_001368894.2(PAX6):c.619A>G (p.Asn207Asp)	rs886044618
NM_001368894.2(PAX6):c.997G>A (p.Asp333Asn)	rs1554983133

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