ClinVar Miner

List of variants in gene combination EFCAB10, RINT1 reported as uncertain significance for infantile liver failure

Included ClinVar conditions (7):

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_021930.6(RINT1):c.2361G>A (p.Trp787Ter)	rs747595808	0.00002
NM_021930.6(RINT1):c.2096GAG[1] (p.Gly700del)	rs1304094668

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