ClinVar Miner

List of variants in gene NOTCH3 reported as uncertain significance for benign neoplasm

Included ClinVar conditions (127):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.*306C>T rs181930934 0.00036
NM_000435.3(NOTCH3):c.2183G>A (p.Arg728His) rs144935367 0.00024
NM_000435.3(NOTCH3):c.3227G>A (p.Arg1076His) rs771803651 0.00008
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu) rs778715118 0.00006
NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp) rs753170185 0.00006
NM_000435.3(NOTCH3):c.2960C>G (p.Thr987Ser) rs752995216 0.00005
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165 0.00005
NM_000435.3(NOTCH3):c.6521G>A (p.Arg2174Gln) rs1337328035 0.00005
NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=) rs149222385 0.00003
NM_000435.3(NOTCH3):c.2051C>T (p.Pro684Leu) rs770737365 0.00002
NM_000435.3(NOTCH3):c.119C>T (p.Ala40Val) rs766139231 0.00001
NM_000435.3(NOTCH3):c.1783G>A (p.Gly595Ser) rs770146452 0.00001
NM_000435.3(NOTCH3):c.214G>A (p.Val72Met) rs2046938247 0.00001
NM_000435.3(NOTCH3):c.21CCG[4] (p.Arg13del) rs894374843
NM_000435.3(NOTCH3):c.3970T>A (p.Cys1324Ser)
NM_000435.3(NOTCH3):c.5114+11T>G rs2046721049
NM_000435.3(NOTCH3):c.6681C>G (p.His2227Gln) rs1366113655

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