List of variants in gene combination LOC130055387, NRL reported as likely pathogenic for inborn disorder of amino acid metabolism

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_001354768.3(NRL):c.654del (p.Cys219fs)	rs761024023	0.00019
NM_001354768.3(NRL):c.619C>T (p.Arg207Cys)	rs2036279881

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