ClinVar Miner

List of variants in gene NOTCH3 reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_000435.3(NOTCH3):c.3658C>T (p.Arg1220Trp) rs115872852 0.00036
NM_000435.3(NOTCH3):c.6632A>G (p.Tyr2211Cys) rs369813654 0.00031
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys) rs375873637 0.00020
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu) rs370422650 0.00019
NM_000435.3(NOTCH3):c.6611C>T (p.Pro2204Leu) rs371738874 0.00014
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met) rs199620476 0.00013
NM_000435.3(NOTCH3):c.4728G>C (p.Glu1576Asp) rs557113034 0.00007
NM_000435.3(NOTCH3):c.1724C>T (p.Thr575Met) rs371176740 0.00004
NM_000435.3(NOTCH3):c.6092G>A (p.Arg2031His) rs779314594 0.00004
NM_000435.3(NOTCH3):c.2978C>T (p.Thr993Met) rs371278091 0.00003
NM_000435.3(NOTCH3):c.133G>C (p.Asp45His) rs142031490 0.00001
NM_000435.3(NOTCH3):c.154G>A (p.Gly52Arg) rs148166997 0.00001
NM_000435.3(NOTCH3):c.2209G>A (p.Ala737Thr) rs754815179 0.00001
NM_000435.3(NOTCH3):c.2329C>T (p.Pro777Ser) rs886054259 0.00001
NM_000435.3(NOTCH3):c.3725G>A (p.Arg1242His) rs146149484 0.00001
NM_000435.3(NOTCH3):c.3919A>G (p.Thr1307Ala) rs1331244525 0.00001
NM_000435.3(NOTCH3):c.1474A>T (p.Ser492Cys) rs2046899820
NM_000435.3(NOTCH3):c.2981del (p.Gly994fs)
NM_000435.3(NOTCH3):c.4475A>C (p.Glu1492Ala) rs2046768843
NM_000435.3(NOTCH3):c.5297T>C (p.Met1766Thr) rs1420105350
NM_000435.3(NOTCH3):c.5704C>T (p.Arg1902Cys)
NM_000435.3(NOTCH3):c.5901G>A (p.Met1967Ile) rs373866355
NM_000435.3(NOTCH3):c.6463G>C (p.Gly2155Arg)
NM_000435.3(NOTCH3):c.6709C>G (p.Arg2237Gly) rs749189648

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