ClinVar Miner

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

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002234.4(KCNA5):c.1149T>C (p.Gly383=) rs2359641 0.98412
NM_001128840.3(CACNA1D):c.2407-17T>C rs2612033 0.87820
NM_001232.4(CASQ2):c.420+6T>C rs9428083 0.71176
NM_001128840.3(CACNA1D):c.1104T>C (p.Asp368=) rs2250736 0.64657
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_001128840.3(CACNA1D):c.2700C>T (p.Ser900=) rs1045958 0.25881
NM_001232.4(CASQ2):c.784-17T>A rs2997741

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