List of variants reported as likely pathogenic for congenital entropion by 3billion, Medical Genetics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000052.7(ATP7A):c.2557G>T (p.Gly853Ter)	rs2149097380
NM_002860.4(ALDH18A1):c.377G>A (p.Arg126His)
NM_006907.4(PYCR1):c.386_387insCGCA (p.Glu130fs)
NM_006907.4(PYCR1):c.540+1G>T	rs752297179
NM_006907.4(PYCR1):c.556G>T (p.Asp186Tyr)	rs2143872369
NM_206943.4(LTBP1):c.1342C>T (p.Gln448Ter)	rs1441358067
NM_206943.4(LTBP1):c.4793_4794del (p.Glu1598fs)	rs2150575155

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