ClinVar Miner

List of variants in gene NOTCH1 reported as benign for Cardiovascular phenotype

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Gene type:
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Total variants: 43
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HGVS dbSNP
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=) rs11574889
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=) rs148331061
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=) rs2229970
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=) rs2229971
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134
NM_017617.5(NOTCH1):c.2588-4G>A rs3125001
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=) rs61751550
NM_017617.5(NOTCH1):c.2664C>T (p.His888=) rs61751548
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895
NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=) rs201985795
NM_017617.5(NOTCH1):c.2813G>A (p.Arg938Gln) rs35962301
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420
NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=) rs139994842
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) rs3812602
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545
NM_017617.5(NOTCH1):c.3401A>G (p.Gln1134Arg) rs374230681
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=) rs61751540
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=) rs10521
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=) rs116316039
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=) rs2229973
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser) rs61733294
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg) rs116317506
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) rs2229974
NM_017617.5(NOTCH1):c.663C>T (p.Pro221=) rs11574872
NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=) rs3812596
NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=) rs61751490
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr) rs111309246
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=) rs61751557
NM_017617.5(NOTCH1):c.7209G>A (p.Gln2403=) rs61751486
NM_017617.5(NOTCH1):c.7233A>G (p.Pro2411=) rs11574911
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val) rs61755043
NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=) rs34152221
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=) rs2229975
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=) rs143654474

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