ClinVar Miner

List of variants in gene NOTCH1 reported by Mendelics

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744 0.00645
NM_017617.5(NOTCH1):c.1042G>C (p.Ala348Pro) rs201236538 0.00418
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972 0.00404
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491 0.00171
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048 0.00079
NM_017617.5(NOTCH1):c.1945C>A (p.Pro649Thr) rs780710009 0.00006
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro) rs200520088
NM_017617.5(NOTCH1):c.1756A>C (p.Thr586Pro) rs764854903
NM_017617.5(NOTCH1):c.1760T>C (p.Phe587Ser) rs771440130
NM_017617.5(NOTCH1):c.1762A>C (p.Thr588Pro) rs747384159
NM_017617.5(NOTCH1):c.3905G>T (p.Arg1302Leu) rs762091081
NM_017617.5(NOTCH1):c.580A>C (p.Thr194Pro) rs770333242
NM_017617.5(NOTCH1):c.931A>C (p.Thr311Pro) rs202145498

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