List of variants in gene PAX6 studied for not specified

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001368894.2(PAX6):c.808-12C>T	rs667773	0.05916
NM_001368894.2(PAX6):c.-129+9G>A	rs56139994	0.02711
NM_001368894.2(PAX6):c.369G>A (p.Glu123=)	rs114384476	0.01168
NM_001368894.2(PAX6):c.130C>A (p.Arg44=)	rs141873759	0.00175
NM_001368894.2(PAX6):c.1032G>A (p.Pro344=)	rs146261351	0.00048
NM_001368894.2(PAX6):c.465C>G (p.Gly155=)	rs139803630	0.00009
NM_001368894.2(PAX6):c.1166C>A (p.Pro389Gln)	rs200015827	0.00003
NM_001368894.2(PAX6):c.1215C>T (p.Thr405=)	rs886038486	0.00001
NM_001368894.2(PAX6):c.435T>C (p.Ala145=)	rs374436481	0.00001
NM_000280.4(PAX6):c.-125dup
NM_001368894.2(PAX6):c.-117dup	rs1554986858
NM_001368894.2(PAX6):c.142-52del	rs145866071
NM_001368894.2(PAX6):c.400-15_400-5del	rs758179195
NM_001368894.2(PAX6):c.424C>A (p.Arg142Ser)	rs121907918
NM_001368894.2(PAX6):c.724+14T>A

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