List of variants reported as pathogenic for corneal dystrophy by Fulgent Genetics, Fulgent Genetics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_021615.5(CHST6):c.599T>G (p.Leu200Arg)	rs28937879	0.00022
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro)	rs121909394	0.00005
NM_021615.5(CHST6):c.304T>G (p.Cys102Gly)	rs121917822	0.00003
NM_198252.3(GSN):c.487G>A (p.Asp163Asn)	rs121909715	0.00001
NM_001174089.2(SLC4A11):c.2140C>T (p.Arg714Ter)	rs772409032
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)	rs121907922
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)	rs886041222

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