ClinVar Miner

List of variants reported as likely pathogenic for infantile liver failure by Natera, Inc.

Included ClinVar conditions (7):

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_018006.5(TRMU):c.1102-3C>G	rs753039116	0.00002
NM_018006.5(TRMU):c.249-2A>G	rs768299416	0.00002
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)	rs753112330

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