List of variants reported as likely pathogenic for corneal disorder by Genetics and Molecular Pathology, SA Pathology

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_021615.5(CHST6):c.997T>C (p.Trp333Arg)	rs758657734	0.00002
NM_013319.3(UBIAD1):c.718G>A (p.Asp240Asn)	rs371811409	0.00001
NM_000358.3(TGFBI):c.1612A>C (p.Thr538Pro)	rs2126915354
NM_000358.3(TGFBI):c.1864A>C (p.Asn622His)	rs2126917690
NM_001174096.2(ZEB1):c.623dup (p.Tyr208Ter)	rs2139506946
NM_001174096.2(ZEB1):c.688-1G>A	rs2139622959
NM_001174096.2(ZEB1):c.692_693del (p.His231fs)

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