List of variants in gene NOTCH1 reported as not provided for Adams-Oliver syndrome 5; Aortic valve disorder

Minimum submission review status:		Collection method:
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: 4

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser)	rs201518848	0.00003
NM_017617.5(NOTCH1):c.2735G>A (p.Arg912Gln)	rs773185855	0.00001
NM_017617.5(NOTCH1):c.4271T>C (p.Leu1424Ser)	rs954507677	0.00001
NM_017617.5(NOTCH1):c.691G>A (p.Gly231Ser)	rs1247729687

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