ClinVar Miner

List of variants in gene NOTCH1 reported as uncertain significance for Thoracic aortic aneurysm and aortic dissection

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Total variants: 34
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HGVS dbSNP
NM_017617.5(NOTCH1):c.1100-7T>C rs376603720
NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met)
NM_017617.5(NOTCH1):c.1712A>C (p.Asp571Ala)
NM_017617.5(NOTCH1):c.1718A>C (p.Asp573Ala)
NM_017617.5(NOTCH1):c.1741A>G (p.Lys581Glu)
NM_017617.5(NOTCH1):c.1747G>A (p.Gly583Ser)
NM_017617.5(NOTCH1):c.17_18delCGinsTT (p.Ala6Val) rs878855023
NM_017617.5(NOTCH1):c.2054A>C (p.Asn685Thr)
NM_017617.5(NOTCH1):c.2206G>A (p.Gly736Arg) rs201662530
NM_017617.5(NOTCH1):c.2243C>A (p.Thr748Asn)
NM_017617.5(NOTCH1):c.2297G>T (p.Gly766Val)
NM_017617.5(NOTCH1):c.2812C>T (p.Arg938Trp) rs554142958
NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=) rs139994842
NM_017617.5(NOTCH1):c.334C>T (p.Arg112Cys)
NM_017617.5(NOTCH1):c.339C>T (p.Asn113=) rs369947231
NM_017617.5(NOTCH1):c.4031C>G (p.Thr1344Arg)
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met) rs201215245
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu) rs150343794
NM_017617.5(NOTCH1):c.4451A>G (p.Asn1484Ser)
NM_017617.5(NOTCH1):c.4587-5dup
NM_017617.5(NOTCH1):c.4952C>T (p.Ser1651Leu)
NM_017617.5(NOTCH1):c.4953G>T (p.Ser1651=)
NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg) rs367838230
NM_017617.5(NOTCH1):c.5934+8G>A rs747822127
NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=) rs201987555
NM_017617.5(NOTCH1):c.6422C>T (p.Ser2141Leu) rs767822693
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn) rs200254239
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112
NM_017617.5(NOTCH1):c.7209G>C (p.Gln2403His)
NM_017617.5(NOTCH1):c.7223T>C (p.Leu2408Pro) rs767728582
NM_017617.5(NOTCH1):c.7400C>T (p.Ser2467Leu) rs375025242
NM_017617.5(NOTCH1):c.7541C>T (p.Pro2514Leu)
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile) rs111627256
NM_017617.5(NOTCH1):c.7642G>A (p.Ala2548Thr)

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