ClinVar Miner

List of variants in gene NOTCH3 reported by OMIM

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Total variants: 17
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HGVS dbSNP
NM_000435.3(NOTCH3):c.1282T>A (p.Cys428Ser) rs267606915
NM_000435.3(NOTCH3):c.1363T>C (p.Cys455Arg) rs28933698
NM_000435.3(NOTCH3):c.187G>A (p.Ala63Thr) rs864621964
NM_000435.3(NOTCH3):c.213G>T (p.Trp71Cys) rs28937321
NM_000435.3(NOTCH3):c.2411-1G>T rs864621966
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.4556T>C (p.Leu1519Pro) rs367543285
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697
NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter) rs796065045
NM_000435.3(NOTCH3):c.6461_6486del (p.Gly2154fs) rs869312909
NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter) rs869312911
NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs) rs773656789
NM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter) rs869312910
NM_000435.3(NOTCH3):c.714_758del (p.Asp239_Asp253del) rs864621965
NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys) rs137852641

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