ClinVar Miner

List of variants in gene TGFBI reported as benign for corneal disorder

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000358.3(TGFBI):c.1620T>C (p.Phe540=) rs4669 0.38557
NM_000358.3(TGFBI):c.651G>C (p.Leu217=) rs1442 0.36069
NM_000358.3(TGFBI):c.981A>G (p.Val327=) rs1054124 0.35276
NM_000358.3(TGFBI):c.1416C>T (p.Leu472=) rs1133170 0.27861
NM_000358.3(TGFBI):c.*267C>A rs17169782 0.03306
NM_000358.3(TGFBI):c.1803G>A (p.Leu601=) rs35151677 0.02232
NM_000358.3(TGFBI):c.1411-3C>T rs11242308 0.02094
NM_000358.3(TGFBI):c.*458G>A rs7854 0.01047
NM_000358.3(TGFBI):c.1027A>G (p.Met343Val) rs35920018 0.00652
NM_000358.3(TGFBI):c.816C>T (p.Asn272=) rs34334509 0.00623
NM_000358.3(TGFBI):c.1312C>T (p.His438Tyr) rs148555720 0.00056

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