ClinVar Miner

Variants in gene DBT with conflicting interpretations "uncertain significance" and "likely pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP
NM_001918.4(DBT):c.1202T>C (p.Ile401Thr) rs1449113689
NM_001918.4(DBT):c.5C>T (p.Ala2Val) rs398123672
NM_001918.4(DBT):c.872G>T (p.Arg291Leu) rs775808731
NM_001918.5(DBT):c.1018-550A>G rs796052135

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