ClinVar Miner

List of variants in gene NOTCH1 reported by Blueprint Genetics,

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Total variants: 26
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HGVS dbSNP
NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu)
NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter) rs869025494
NM_017617.5(NOTCH1):c.2021T>C (p.Met674Thr) rs587782970
NM_017617.5(NOTCH1):c.2068G>A (p.Gly690Arg) rs764112977
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048
NM_017617.5(NOTCH1):c.2363G>T (p.Cys788Phe)
NM_017617.5(NOTCH1):c.2446A>G (p.Asn816Asp)
NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser) rs369259434
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017617.5(NOTCH1):c.2812C>T (p.Arg938Trp) rs554142958
NM_017617.5(NOTCH1):c.3172-5C>T
NM_017617.5(NOTCH1):c.3852C>G (p.Cys1284Trp)
NM_017617.5(NOTCH1):c.3901+3G>A rs373113999
NM_017617.5(NOTCH1):c.3970G>T (p.Val1324Leu)
NM_017617.5(NOTCH1):c.4057G>A (p.Gly1353Ser)
NM_017617.5(NOTCH1):c.4078G>A (p.Gly1360Ser) rs769493139
NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg) rs367838230
NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys) rs745901158
NM_017617.5(NOTCH1):c.5819G>A (p.Arg1940His)
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr) rs567909904
NM_017617.5(NOTCH1):c.6422C>T (p.Ser2141Leu) rs767822693
NM_017617.5(NOTCH1):c.6449A>G (p.Lys2150Arg)
NM_017617.5(NOTCH1):c.695C>A (p.Thr232Asn) rs869025493
NM_017617.5(NOTCH1):c.7279G>A (p.Gly2427Ser) rs370722609
NM_017617.5(NOTCH1):c.7400C>T (p.Ser2467Leu) rs375025242
NM_017617.5(NOTCH1):c.7541_7542del (p.Pro2514fs) rs763016003

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