List of variants reported as uncertain significance for blepharophimosis, ptosis, and epicanthus inversus syndrome

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_023067.4(FOXL2):c.647C>T (p.Ala216Val)	rs565208053	0.00002
NM_023067.4(FOXL2):c.772T>A (p.Tyr258Asn)	rs28937885	0.00001
NM_023067.4(FOXL2):c.184_198dup (p.Leu62_Ala66dup)	rs1057516143
NM_023067.4(FOXL2):c.208A>G (p.Ser70Gly)	rs1057516146
NM_023067.4(FOXL2):c.210C>A (p.Ser70Arg)
NM_023067.4(FOXL2):c.233C>A (p.Ser78Tyr)	rs1057516147
NM_023067.4(FOXL2):c.256G>C (p.Ala86Pro)	rs1057516148
NM_023067.4(FOXL2):c.308G>A (p.Arg103His)	rs1057516152
NM_023067.4(FOXL2):c.308G>T (p.Arg103Leu)	rs1057516152
NM_023067.4(FOXL2):c.313_315del (p.Asn105del)	rs1057516154
NM_023067.4(FOXL2):c.314_319del (p.Asn105_Leu106del)	rs1057516155
NM_023067.4(FOXL2):c.389T>A (p.Leu130Gln)	rs1057516160
NM_023067.4(FOXL2):c.389T>C (p.Leu130Pro)	rs1057516160
NM_023067.4(FOXL2):c.578A>G (p.Lys193Arg)	rs1057516162
NM_023067.4(FOXL2):c.656A>T (p.Gln219Leu)	rs1057516169
NM_023067.4(FOXL2):c.672_674del (p.Ala234del)	rs779509486
NM_023067.4(FOXL2):c.718G>T (p.Gly240Cys)	rs767088367

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