ClinVar Miner

Variants in gene combination DNM1L, YARS2 with conflicting interpretations reported as "uncertain significance and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_001040436.3(YARS2):c.*126_*127del rs141873255 0.00137
NM_001040436.3(YARS2):c.*360A>G rs567955032 0.00069
NM_001040436.3(YARS2):c.*142T>C rs190589666 0.00010
NM_001040436.3(YARS2):c.*230A>G rs371690622 0.00001
NM_001040436.3(YARS2):c.*62G>A rs527443669

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