ClinVar Miner

List of variants reported as likely pathogenic for nutritional biotin deficiency by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)	rs119103232	0.00001
NM_001370658.1(BTD):c.1259T>C (p.Leu420Pro)	rs1575031012
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn)	rs144717999

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