List of variants in gene PAX6 reported as uncertain significance by GeneDx

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001368894.2(PAX6):c.958+4A>T	rs765926181	0.00008
NM_001368894.2(PAX6):c.1078C>G (p.Pro360Ala)	rs780973082	0.00001
NM_001368894.2(PAX6):c.622G>A (p.Gly208Arg)	rs374396492	0.00001
NM_001368894.2(PAX6):c.-129+1G>C	rs1565277245
NM_001368894.2(PAX6):c.1074+3_1074+6del	rs2134572801
NM_001368894.2(PAX6):c.142-3T>C
NM_001368894.2(PAX6):c.161T>G (p.Val54Gly)	rs121907921
NM_001368894.2(PAX6):c.399+4A>G	rs1554985282
NM_001368894.2(PAX6):c.424C>A (p.Arg142Ser)	rs121907918
NM_001368894.2(PAX6):c.55C>T (p.Arg19Trp)	rs1263617876
NM_001368894.2(PAX6):c.761G>A (p.Arg254Gln)	rs2134611494
NM_001368894.2(PAX6):c.808G>C (p.Val270Leu)	rs779126789
NM_001368894.2(PAX6):c.86T>C (p.Ile29Thr)

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