ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420 0.62688
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) rs2229974 0.59546
NM_017617.5(NOTCH1):c.1441+7C>T rs9411208 0.57467
NM_017617.5(NOTCH1):c.2588-4G>A rs3125001 0.48952
NM_017617.5(NOTCH1):c.1555+10A>G rs11145767 0.48034
NM_017617.5(NOTCH1):c.1670-9A>G rs3124603 0.47256
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=) rs10521 0.43502
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=) rs2229971 0.42989
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=) rs2229975 0.12249
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546 0.00283
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00221

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