ClinVar Miner

List of variants reported as likely pathogenic 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.674G>A (p.Cys225Tyr)	rs397507175	0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)	rs397514382	0.00001

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