List of variants reported as uncertain significance for Septo-optic dysplasia sequence by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NC_000003.12:g.57200194A>C	rs983243	0.00148
NM_003865.3(HESX1):c.525G>A (p.Ala175=)	rs141063672	0.00123
NM_003865.2(HESX1):c.-230T>A	rs549564119	0.00050
NM_003865.3(HESX1):c.220G>A (p.Val74Met)	rs148422263	0.00014
NM_003865.3(HESX1):c.-6G>A	rs368171529	0.00012
NM_003865.3(HESX1):c.541A>G (p.Thr181Ala)	rs28936704	0.00008
NM_003865.3(HESX1):c.*48G>A	rs372550682	0.00005
NM_003865.3(HESX1):c.183T>C (p.His61=)	rs374187836	0.00001
NM_003865.2(HESX1):c.-203_-200delAATT	rs886058754
NM_003865.2(HESX1):c.-245delT	rs886058755
NM_003865.3(HESX1):c.*192T>A	rs886058753

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