List of variants in gene NOTCH1 reported as pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.166C>T (p.Arg56Ter)	rs1348892740	0.00001
NM_017617.5(NOTCH1):c.2023del (p.Cys675fs)	rs1064795976
NM_017617.5(NOTCH1):c.2407C>T (p.Gln803Ter)
NM_017617.5(NOTCH1):c.2448dup (p.Cys817fs)	rs1589064285
NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter)	rs41309764
NM_017617.5(NOTCH1):c.428del (p.Pro143fs)	rs2133377982
NM_017617.5(NOTCH1):c.6593C>A (p.Ser2198Ter)	rs761562076

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