ClinVar Miner

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

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP
NM_001918.4(DBT):c.670G>T (p.Glu224Ter) rs74103423
NM_001918.4(DBT):c.75_76del (p.Cys26fs) rs768832921
NM_001918.4(DBT):c.827T>G (p.Phe276Cys) rs121964999
NM_001918.4(DBT):c.901C>T (p.Arg301Cys) rs185492864
NM_001918.4(DBT):c.939G>C (p.Lys313Asn) rs398123676

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