ClinVar Miner

Variants in gene combination LDB3, LOC110121486 with conflicting interpretations reported as "likely benign and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_007078.3(LDB3):c.690-4621A>G rs370053163 0.00016
NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr) rs373632943 0.00015
NM_001368067.1(LDB3):c.415G>A (p.Glu139Lys) rs374613600 0.00006
NM_001368067.1(LDB3):c.346G>A (p.Ala116Thr) rs200458194 0.00005
NM_007078.3(LDB3):c.689+3861C>T rs754704023 0.00004
NM_007078.3(LDB3):c.690-4617G>A rs754174632 0.00004
NM_001368067.1(LDB3):c.456G>A (p.Ala152=) rs371708921 0.00002
NM_001368067.1(LDB3):c.456G>T (p.Ala152=) rs371708921

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