ClinVar Miner

List of variants in gene NOTCH1 reported as uncertain significance for Connective tissue disorder

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Total variants: 6
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HGVS dbSNP
NM_017617.5(NOTCH1):c.2266G>A (p.Glu756Lys) rs1271941628
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met) rs112900950
NM_017617.5(NOTCH1):c.5260G>A (p.Val1754Met) rs1554727492
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys) rs752505638
NM_017617.5(NOTCH1):c.7482G>A (p.Val2494=) rs1268405497
NM_017617.5(NOTCH1):c.865+10C>T rs760702631

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