ClinVar Miner

List of variants reported as benign for heart conduction disease by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_201596.3(CACNB2):c.*10G>T rs4747352 0.76187
NM_001232.4(CASQ2):c.420+6T>C rs9428083 0.71176
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_001232.4(CASQ2):c.196A>G (p.Thr66Ala) rs4074536 0.34486
NM_001232.4(CASQ2):c.784-17T>A rs2997741
NM_201596.3(CACNB2):c.457-17T>G rs4485000

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