ClinVar Miner

List of variants reported as benign for Aortic valve disease 1; Adams-Oliver syndrome 5 by Fulgent Genetics, Fulgent Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=) rs61751557 0.01860
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=) rs2229970 0.01759
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=) rs2229973 0.01198
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00898
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=) rs11574889 0.00854
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907 0.00561
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553 0.00093

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