List of variants in gene combination LOC130003020, NOTCH1 studied for Familial thoracic aortic aneurysm and aortic dissection

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.52G>A (p.Ala18Thr)	rs754613772	0.00015
NM_017617.5(NOTCH1):c.17C>T (p.Ala6Val)	rs758139292	0.00013
NM_017617.5(NOTCH1):c.19C>T (p.Pro7Ser)	rs1397523469	0.00013
NM_017617.5(NOTCH1):c.35C>T (p.Ala12Val)	rs1473062369	0.00001
NM_017617.5(NOTCH1):c.16G>T (p.Ala6Ser)	rs1564217184
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=)
NM_017617.5(NOTCH1):c.59G>T (p.Arg20Leu)	rs1554733799

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