ClinVar Miner

List of variants in gene NOTCH1 reported as uncertain significance for Aortic valve disease 1; 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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys)	rs745901158	0.00003
NM_017617.5(NOTCH1):c.2021T>C (p.Met674Thr)	rs587782970	0.00001

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