ClinVar Miner

List of variants in gene NOTCH2 reported as pathogenic for Hajdu-Cheney syndrome

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Total variants: 16
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NM_024408.3(NOTCH2):c.3246dup (p.Ala1083Serfs) rs1553195973
NM_024408.3(NOTCH2):c.5345delA (p.Asp1782Alafs) rs1553193977
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.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_024408.4(NOTCH2):c.6272del (p.Phe2091Serfs)
NM_024408.4(NOTCH2):c.7119T>G (p.Tyr2373Ter)
NOTCH2, 1-BP DEL, 6460T

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