ClinVar Miner

List of variants studied for biotinidase deficiency by Suma Genomics

Included ClinVar conditions (1):

Biotinidase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_001370658.1(BTD):c.176G>A (p.Arg59His)	rs397514343	0.00001
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)	rs80338684
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn)	rs144717999

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