List of variants reported as uncertain significance for eyelid disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000501.4(ELN):c.1537G>A (p.Val513Ile)	rs372788076	0.00007
NM_016938.5(EFEMP2):c.167A>G (p.Asn56Ser)	rs768570882	0.00002
NM_030777.4(SLC2A10):c.389G>A (p.Arg130Gln)	rs1438650724	0.00001
NM_000381.4(MID1):c.1649G>A (p.Ser550Asn)
NM_000501.4(ELN):c.1484T>G (p.Val495Gly)
NM_001085458.2(CTNND1):c.1889C>T (p.Ser630Phe)
NM_003573.2(LTBP4):c.76-2A>G
NM_004360.5(CDH1):c.1320G>A (p.Lys440=)
NM_012463.4(ATP6V0A2):c.2441T>A (p.Phe814Tyr)	rs2135923855
NM_016938.5(EFEMP2):c.732TGA[1] (p.Asp245del)
NM_030777.4(SLC2A10):c.851C>A (p.Thr284Asn)	rs765689972
NM_207361.6(FREM2):c.475G>A (p.Ala159Thr)

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