ClinVar Miner

List of variants reported as benign for Aortic valve disease 1 by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) rs2229974 0.58641
NM_017617.5(NOTCH1):c.1441+7C>T rs9411208 0.57467
NM_017617.5(NOTCH1):c.2588-4G>A rs3125001 0.48926
NM_017617.5(NOTCH1):c.1670-9A>G rs3124603 0.47096
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=) rs2229975 0.12249

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