List of variants in gene combination ELP4, PAX6 reported as benign for obsolete anophthalmia-microphthalmia syndrome

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_019040.5(ELP4):c.*3208C>T	rs608293	0.88020
NM_019040.5(ELP4):c.*5226T>A	rs1506	0.72043
NM_019040.5(ELP4):c.*2452C>T	rs3026401	0.70691
NM_019040.5(ELP4):c.*4250C>T	rs12421026	0.42881
NM_019040.5(ELP4):c.*3703G>A	rs3026398	0.22983
NM_019040.5(ELP4):c.*3998C>T	rs662702	0.14929
NM_019040.5(ELP4):c.*2114C>G	rs16922475	0.05615
NM_019040.5(ELP4):c.*3509A>G	rs542906080	0.04927
NM_019040.5(ELP4):c.*4105C>T	rs73477656	0.02650
NM_001368894.2(PAX6):c.*842G>A	rs115045926	0.01172
NM_019040.5(ELP4):c.*3851C>T	rs141344418	0.00935
NM_019040.5(ELP4):c.*3994C>A	rs79739975	0.00857
NM_001368894.2(PAX6):c.*417C>T	rs55756603	0.00810
NM_019040.5(ELP4):c.*4172A>C	rs73477658	0.00701
NM_019040.5(ELP4):c.*5347T>C	rs117590302	0.00220

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