ClinVar Miner

List of variants in gene NOTCH3 reported as likely pathogenic by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
ClinVar version:
Total variants: 7
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NM_000435.3(NOTCH3):c.1432T>A (p.Cys478Ser)
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys) rs769773673
NM_000435.3(NOTCH3):c.1774C>T (p.Arg592Cys) rs764148985
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101
NM_000435.3(NOTCH3):c.376A>T (p.Ser126Cys) rs1555729534
NM_000435.3(NOTCH3):c.3878G>T (p.Cys1293Phe)
NM_000435.3(NOTCH3):c.932G>T (p.Cys311Phe) rs1555729346

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