ClinVar Miner

List of variants reported as pathogenic for corneal disorder by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_198252.3(GSN):c.487G>A (p.Asp163Asn) rs121909715 0.00001
NM_000358.3(TGFBI):c.371G>T (p.Arg124Leu) rs121909211
NM_198252.3(GSN):c.487G>T (p.Asp163Tyr) rs121909715

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