ClinVar Miner

List of variants reported as benign for biotinidase deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (1):

Biotinidase deficiency

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_001370658.1(BTD):c.1353T>C (p.Cys451=)	rs3817641	0.08986
NM_001370658.1(BTD):c.585C>T (p.Leu195=)	rs145388314	0.00669

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