ClinVar Miner

List of variants in gene DBT reported as uncertain significance for Maple syrup urine disease type 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001918.5(DBT):c.1190C>T (p.Thr397Ile)	rs1570806466
NM_001918.5(DBT):c.916T>C (p.Ser306Pro)	rs2100797134

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