ClinVar Miner

List of variants studied for biotinidase deficiency by Arcensus

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1386dup (p.Glu463Ter) rs2471521697
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001370658.1(BTD):c.41_44del (p.Gly14fs) rs1249246307
NM_001370658.1(BTD):c.44_45del (p.Cys15fs) rs750965140
NM_001370658.1(BTD):c.675C>A (p.Cys225Ter) rs767518580

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