List of variants studied for corneal dystrophy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001386094.1(AGBL1):c.985A>T (p.Thr329Ser)	rs745458688	0.00002
NM_000494.4(COL17A1):c.2062C>T (p.Arg688Ter)	rs768415627	0.00001
NM_000494.4(COL17A1):c.460C>T (p.Arg154Ter)	rs1564685400	0.00001
NM_000494.4(COL17A1):c.3071-5G>A	rs370589324
NM_000494.4(COL17A1):c.4142C>T (p.Ser1381Leu)	rs2086242885
NM_001174096.2(ZEB1):c.976C>T (p.Arg326Ter)	rs1057518956
NM_198252.3(GSN):c.1585G>A (p.Glu529Lys)	rs2063220897

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