List of variants reported as pathogenic for congenital entropion by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys)	rs121918376	0.00014
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)	rs121908173	0.00010
NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln)	rs121918374	0.00007
NM_006907.4(PYCR1):c.535G>A (p.Ala179Thr)	rs139751598	0.00004
NM_006907.4(PYCR1):c.138+1G>A	rs755867227	0.00002
NM_006907.4(PYCR1):c.616G>A (p.Gly206Arg)	rs121918375	0.00002
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter)	rs370547023	0.00002
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln)	rs771028960	0.00002
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)	rs80356750	0.00001
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys)	rs193302867	0.00001
NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys)	rs763220502	0.00001
NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp)	rs1028534806
NM_006907.4(PYCR1):c.148del (p.Gly49_Val50insTer)
NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr)	rs193302868
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs)	rs587776600

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