ClinVar Miner

List of variants in gene NOTCH1 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 18
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HGVS dbSNP
NM_017617.5(NOTCH1):c.1100-8C>T rs545088400
NM_017617.5(NOTCH1):c.1380G>A (p.Pro460=) rs368963607
NM_017617.5(NOTCH1):c.1725C>T (p.Cys575=) rs369070550
NM_017617.5(NOTCH1):c.2005G>C (p.Gly669Arg) rs778394191
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017617.5(NOTCH1):c.3231C>G (p.Thr1077=) rs781656729
NM_017617.5(NOTCH1):c.3468C>T (p.Asn1156=)
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445
NM_017617.5(NOTCH1):c.4698C>T (p.Pro1566=) rs200462746
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183
NM_017617.5(NOTCH1):c.5126T>C (p.Leu1709Pro) rs886043624
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro) rs201779159
NM_017617.5(NOTCH1):c.6259C>T (p.Arg2087Trp)
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser) rs201518848
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met) rs769693988
NM_017617.5(NOTCH1):c.7554C>G (p.Asp2518Glu) rs771410115
NM_017617.5(NOTCH1):c.825C>T (p.Gly275=) rs61751556

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