ClinVar Miner

List of variants reported for Epithelial-stromal TGFBI dystrophy by Genetics and Molecular Pathology, SA Pathology

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys)	rs121909210	0.00001
NM_000358.3(TGFBI):c.1612A>C (p.Thr538Pro)	rs2126915354
NM_000358.3(TGFBI):c.1864A>C (p.Asn622His)	rs2126917690
NM_000358.3(TGFBI):c.370C>A (p.Arg124Ser)	rs121909210

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