List of variants in gene combination LOC130003020, NOTCH1 reported as likely benign for Familial thoracic aortic aneurysm and aortic dissection

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.17C>T (p.Ala6Val)	rs758139292	0.00013
NM_017617.5(NOTCH1):c.17_18delinsTT (p.Ala6Val)	rs878855023
NM_017617.5(NOTCH1):c.18G>A (p.Ala6=)	rs752471556
NM_017617.5(NOTCH1):c.36G>A (p.Ala12=)	rs1843806561
NM_017617.5(NOTCH1):c.57A>G (p.Ala19=)

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