ClinVar Miner

List of variants in gene NOTCH1 reported as likely benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 6
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HGVS dbSNP
NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His) rs201768800
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134
NM_017617.5(NOTCH1):c.2604C>T (p.Val868=) rs115235667
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356

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