ClinVar Miner

List of variants in gene TGFBI reported as likely pathogenic for corneal dystrophy

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000358.3(TGFBI):c.1406G>A (p.Arg469His) rs376761086 0.00002
NM_000358.3(TGFBI):c.1501C>A (p.Pro501Thr) rs121909212
NM_000358.3(TGFBI):c.1517_1518insCAAGGG (p.Met506delinsIleLysGly)
NM_000358.3(TGFBI):c.1612A>C (p.Thr538Pro) rs2126915354
NM_000358.3(TGFBI):c.1772C>A (p.Ser591Tyr) rs1751703312
NM_000358.3(TGFBI):c.1855A>G (p.Met619Val) rs2126917684
NM_000358.3(TGFBI):c.1864A>C (p.Asn622His) rs2126917690

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