List of variants in gene NOTCH2 reported as pathogenic for not provided

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter)	rs1325403451	0.00001
NM_024408.4(NOTCH2):c.1021dup (p.Asp341fs)	rs1553200134
NM_024408.4(NOTCH2):c.1835dup (p.Tyr612Ter)	rs1553199298
NM_024408.4(NOTCH2):c.3246dup (p.Ala1083fs)	rs1553195973
NM_024408.4(NOTCH2):c.3415dup (p.Leu1139fs)	rs1557812162
NM_024408.4(NOTCH2):c.4005+1G>A	rs1557807153
NM_024408.4(NOTCH2):c.4457del (p.Thr1486fs)	rs1064793660
NM_024408.4(NOTCH2):c.5274G>A (p.Trp1758Ter)	rs1553194093
NM_024408.4(NOTCH2):c.5664dup (p.Arg1889fs)	rs927740391
NM_024408.4(NOTCH2):c.5843del (p.Leu1948fs)	rs1557803353
NM_024408.4(NOTCH2):c.5983_5984del (p.Leu1995fs)	rs1649134213
NM_024408.4(NOTCH2):c.6007C>T (p.Arg2003Ter)	rs312262801
NM_024408.4(NOTCH2):c.6424_6427del (p.Ser2142fs)	rs1064793515
NM_024408.4(NOTCH2):c.6659C>G (p.Ser2220Ter)	rs886041979
NM_024408.4(NOTCH2):c.6758G>A (p.Trp2253Ter)	rs1553193524
NM_024408.4(NOTCH2):c.6787C>T (p.Gln2263Ter)	rs886041862
NM_024408.4(NOTCH2):c.7021C>T (p.Gln2341Ter)

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