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

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_021615.5(CHST6):c.599T>G (p.Leu200Arg)	rs28937879	0.00022
NM_000358.3(TGFBI):c.371G>A (p.Arg124His)	rs121909211	0.00003
NM_021615.5(CHST6):c.304T>G (p.Cys102Gly)	rs121917822	0.00003
NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys)	rs121909210	0.00001
NM_000494.4(COL17A1):c.3156C>T (p.Gly1052=)	rs760714959	0.00001
NM_015040.4(PIKFYVE):c.2344C>T (p.Arg782Ter)	rs992128517	0.00001
NM_198252.3(GSN):c.487G>A (p.Asp163Asn)	rs121909715	0.00001
NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp)	rs121909208
NM_000358.3(TGFBI):c.1664G>A (p.Arg555Gln)	rs121909209
NM_000358.3(TGFBI):c.370C>A (p.Arg124Ser)	rs121909210
NM_015040.4(PIKFYVE):c.4511G>A (p.Trp1504Ter)	rs2125682979
NM_021615.5(CHST6):c.847_848delinsTG (p.Glu283Ter)	rs2151665554

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