ClinVar Miner

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

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_021615.5(CHST6):c.599T>G (p.Leu200Arg)	rs28937879	0.00022
NM_021615.5(CHST6):c.304T>G (p.Cys102Gly)	rs121917822	0.00003
NM_021615.5(CHST6):c.847_848delinsTG (p.Glu283Ter)	rs2151665554

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