ClinVar Miner

List of variants reported as uncertain significance for nutritional biotin deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (2):

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.635T>G (p.Phe212Cys)	rs768097543	0.00002
NM_001370658.1(BTD):c.1473G>C (p.Gln491His)	rs764375610	0.00001

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