ClinVar Miner

List of variants in gene NOTCH3 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 19
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HGVS dbSNP
NM_000435.3(NOTCH3):c.1235A>G (p.Gln412Arg) rs1131691934
NM_000435.3(NOTCH3):c.128G>A (p.Cys43Tyr) rs1555730204
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034
NM_000435.3(NOTCH3):c.163T>C (p.Cys55Arg) rs1568363980
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101
NM_000435.3(NOTCH3):c.2956T>G (p.Cys986Gly)
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466
NM_000435.3(NOTCH3):c.3182G>A (p.Cys1061Tyr) rs1064794216
NM_000435.3(NOTCH3):c.351C>G (p.Cys117Trp)
NM_000435.3(NOTCH3):c.376A>T (p.Ser126Cys) rs1555729534
NM_000435.3(NOTCH3):c.383G>T (p.Cys128Phe) rs1568362039
NM_000435.3(NOTCH3):c.437G>T (p.Cys146Phe) rs1236699193
NM_000435.3(NOTCH3):c.5926dup (p.Leu1976fs) rs1555725170
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348
NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr) rs1555729452
NM_000435.3(NOTCH3):c.6692del (p.Pro2231fs) rs773656789
NM_000435.3(NOTCH3):c.932G>T (p.Cys311Phe) rs1555729346
NM_000435.3(NOTCH3):c.953G>A (p.Cys318Tyr) rs1568361404

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