ClinVar Miner

List of variants reported as likely pathogenic for disorder of tyrosine metabolism by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (15):

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	rs104894313	0.00375
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys)	rs376823382	0.00022

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