ClinVar Miner

List of variants in gene TGFBI reported as pathogenic by Neuberg Centre For Genomic Medicine, NCGM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000358.3(TGFBI):c.371G>A (p.Arg124His)	rs121909211	0.00003
NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys)	rs121909210	0.00001

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