ClinVar Miner

List of variants studied for nutritional biotin deficiency by 3billion

Included ClinVar conditions (2):
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Total variants: 3
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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.535G>A (p.Val179Met) rs397514375 0.00003
NM_001370658.1(BTD):c.941_942del (p.Ile314fs) rs749162799 0.00001

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