ClinVar Miner

List of variants in gene NOTCH2 reported as pathogenic

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Total variants: 38
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HGVS dbSNP
NM_024408.3(NOTCH2):c.1021dup (p.Asp341Glyfs) rs1553200134
NM_024408.3(NOTCH2):c.1117T>C (p.Cys373Arg) rs312262793
NM_024408.3(NOTCH2):c.1147C>T (p.Pro383Ser) rs312262795
NM_024408.3(NOTCH2):c.1180C>T (p.Pro394Ser) rs312262794
NM_024408.3(NOTCH2):c.1331G>A (p.Cys444Tyr) rs111033632
NM_024408.3(NOTCH2):c.1438T>C (p.Cys480Arg) rs312262799
NM_024408.3(NOTCH2):c.1835dup (p.Tyr612Terfs) rs1553199298
NM_024408.3(NOTCH2):c.2566_2567delAG (p.Ser856Leufs) rs312262800
NM_024408.3(NOTCH2):c.3246dup (p.Ala1083Serfs) rs1553195973
NM_024408.3(NOTCH2):c.4005+1G>A
NM_024408.3(NOTCH2):c.4457delC (p.Thr1486Argfs) rs1064793660
NM_024408.3(NOTCH2):c.5274G>A (p.Trp1758Ter) rs1553194093
NM_024408.3(NOTCH2):c.5345delA (p.Asp1782Alafs) rs1553193977
NM_024408.3(NOTCH2):c.5843del (p.Leu1948Argfs)
NM_024408.3(NOTCH2):c.5857C>T (p.Arg1953Cys) rs312262796
NM_024408.3(NOTCH2):c.5858G>A (p.Arg1953His) rs312262797
NM_024408.3(NOTCH2):c.5930-1G>A rs312262798
NM_024408.3(NOTCH2):c.6007C>T (p.Arg2003Ter) rs312262801
NM_024408.3(NOTCH2):c.6424_6427delTCTG (p.Ser2142Argfs) rs1064793515
NM_024408.3(NOTCH2):c.6449_6450delCT (p.Pro2150Argfs) rs1553193574
NM_024408.3(NOTCH2):c.6503delC (p.Pro2168Glnfs)
NM_024408.3(NOTCH2):c.6622C>T (p.Gln2208Ter) rs387906746
NM_024408.3(NOTCH2):c.6659C>G (p.Ser2220Ter) rs886041979
NM_024408.3(NOTCH2):c.6758G>A (p.Trp2253Ter) rs1553193524
NM_024408.3(NOTCH2):c.6787C>T (p.Gln2263Ter) rs886041862
NM_024408.3(NOTCH2):c.6853C>T (p.Gln2285Ter) rs1553193507
NM_024408.3(NOTCH2):c.6895G>T (p.Glu2299Ter) rs387906748
NM_024408.3(NOTCH2):c.6909dupC (p.Ile2304Hisfs) rs771237928
NM_024408.3(NOTCH2):c.6949C>T (p.Gln2317Ter) rs387906747
NM_024408.3(NOTCH2):c.7078C>T (p.Gln2360Ter) rs1553193485
NM_024408.3(NOTCH2):c.7165C>T (p.Gln2389Ter) rs387906749
NM_024408.3(NOTCH2):c.7198C>T (p.Arg2400Ter) rs1325403451
NM_024408.3:c.6909delC
NM_024408.4(NOTCH2):c.3415dup (p.Leu1139Profs)
NM_024408.4(NOTCH2):c.5664dup (p.Arg1889Thrfs)
NM_024408.4(NOTCH2):c.6272del (p.Phe2091Serfs)
NM_024408.4(NOTCH2):c.7119T>G (p.Tyr2373Ter)
NOTCH2, 1-BP DEL, 6460T

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