ClinVar Miner

List of variants in gene NOTCH3 reported by Gharavi Laboratory, Columbia University

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.1076C>G (p.Pro359Arg) rs1487017745 0.00001
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101 0.00001
NM_000435.3(NOTCH3):c.1153G>A (p.Gly385Ser) rs1568360640
NM_000435.3(NOTCH3):c.1871G>A (p.Cys624Tyr) rs758997426
NM_000435.3(NOTCH3):c.21CCG[4] (p.Arg13del) rs894374843
NM_000435.3(NOTCH3):c.2557T>C (p.Cys853Arg) rs1568357588
NM_000435.3(NOTCH3):c.3488A>T (p.Asp1163Val) rs1568354937

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