List of variants in gene NOTCH1 reported as pathogenic for Aortic valve disease 1

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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.1787C>T (p.Thr596Met)	rs61755997	0.00020
NM_017617.5(NOTCH1):c.2439C>G (p.Tyr813Ter)	rs1057515422
NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter)	rs41309764
NM_017617.5(NOTCH1):c.3765C>A (p.Cys1255Ter)	rs1057515423
NM_017617.5(NOTCH1):c.4512del (p.Cys1505fs)	rs41309766
NM_017617.5(NOTCH1):c.6348C>G (p.Tyr2116Ter)	rs1057518661
NOTCH1, PRO1797HIS

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