List of variants in gene LCA5 reported as uncertain significance for Leber congenital amaurosis 1

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: 26

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HGVS	dbSNP	gnomAD frequency
NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr)	rs143582502	0.00134
NM_001122769.3(LCA5):c.902G>A (p.Arg301His)	rs139142572	0.00109
NM_001122769.3(LCA5):c.1843A>G (p.Ser615Gly)	rs143030450	0.00087
NM_001122769.3(LCA5):c.1083A>G (p.Pro361=)	rs367733392	0.00021
NM_001122769.3(LCA5):c.1550G>T (p.Arg517Ile)	rs140706052	0.00009
NM_001122769.3(LCA5):c.1912A>G (p.Asn638Asp)	rs371962473	0.00009
NM_001122769.3(LCA5):c.1019A>G (p.Lys340Arg)	rs577692224	0.00008
NM_001122769.3(LCA5):c.858+5G>C	rs200302979	0.00007
NM_001122769.3(LCA5):c.280C>T (p.Arg94Trp)	rs771098708	0.00005
NM_001122769.3(LCA5):c.1862G>A (p.Ser621Asn)	rs756929736	0.00004
NM_001122769.3(LCA5):c.595A>G (p.Thr199Ala)	rs775866690	0.00004
NM_001122769.3(LCA5):c.705C>T (p.Thr235=)	rs774718880	0.00004
NM_001122769.3(LCA5):c.*35del	rs747368961	0.00003
NM_001122769.3(LCA5):c.827A>G (p.Lys276Arg)	rs368131181	0.00003
NM_001122769.3(LCA5):c.706G>A (p.Glu236Lys)	rs377719240	0.00002
NM_001122769.3(LCA5):c.250C>T (p.Arg84Cys)	rs750430540	0.00001
NM_001122769.3(LCA5):c.439C>T (p.Leu147=)	rs141291555	0.00001
NM_001122769.3(LCA5):c.73T>C (p.Ser25Pro)	rs199902236	0.00001
NM_001122769.3(LCA5):c.*22dup	rs767286706
NM_001122769.3(LCA5):c.-251G>A	rs886061793
NM_001122769.3(LCA5):c.1101C>T (p.Asp367=)	rs1769766843
NM_001122769.3(LCA5):c.1267G>C (p.Glu423Gln)	rs777920075
NM_001122769.3(LCA5):c.165T>G (p.Thr55=)	rs534076319
NM_001122769.3(LCA5):c.1805C>G (p.Ala602Gly)	rs1769692203
NM_001122769.3(LCA5):c.469A>G (p.Ile157Val)	rs901281230
NM_001122769.3(LCA5):c.484T>C (p.Phe162Leu)	rs533963525

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