List of variants in gene combination ELP4, 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: 29

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HGVS	dbSNP	gnomAD frequency
NM_001368894.2(PAX6):c.*356T>A	rs774392481	0.00945
NM_001368894.2(PAX6):c.*357A>T	rs774473337	0.00189
NM_000280.4(PAX6):c.*2887delG	rs886048188	0.00050
NM_000280.4(PAX6):c.*1394A>C	rs776894983	0.00031
NM_001368894.2(PAX6):c.*335T>C	rs766518284	0.00020
NM_000280.4(PAX6):c.*3908C>T	rs886048185	0.00007
NM_000280.4(PAX6):c.*2490G>A	rs886048191	0.00003
NM_000280.4(PAX6):c.*2906A>G	rs886048187	0.00003
NM_000280.4(PAX6):c.*4533T>C	rs745626044	0.00003
NM_000280.4(PAX6):c.*1053T>C	rs886048197	0.00001
NM_000280.4(PAX6):c.*1521C>T	rs886048196	0.00001
NM_000280.4(PAX6):c.*2387G>T	rs886048194	0.00001
NM_000280.4(PAX6):c.*2551C>T	rs886048190	0.00001
NM_000280.4(PAX6):c.*939A>G	rs886048198	0.00001
NM_001368894.2(PAX6):c.*207G>A	rs886048199	0.00001
NM_001368894.2(PAX6):c.*226T>C	rs753595935	0.00001
NM_000280.4(PAX6):c.*2385G>C	rs886048195
NM_000280.4(PAX6):c.*2393T>C	rs886048193
NM_000280.4(PAX6):c.*2432A>G	rs886048192
NM_000280.4(PAX6):c.2705_2707delAGC	rs886048189
NM_000280.4(PAX6):c.3700_3701delGT	rs886048186
NM_000280.4(PAX6):c.*4003G>T	rs886048184
NM_000280.4(PAX6):c.*4076A>C	rs886048183
NM_000280.4(PAX6):c.*4128C>T	rs886048182
NM_000280.4(PAX6):c.*4361T>C	rs886048181
NM_000280.4(PAX6):c.4919_4921delATTinsCACAGATTAAAAGAAATG	rs886048180
NM_001368894.2(PAX6):c.*107G>C	rs886048201
NM_001368894.2(PAX6):c.*183dup	rs886048200
NM_001368894.2(PAX6):c.*356del	rs200391530

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