ClinVar Miner

List of variants in gene NOTCH1 reported as uncertain significance for Pulmonary arterial hypertension

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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.5414T>C (p.Leu1805Pro)	rs201779159	0.00010
NM_017617.5(NOTCH1):c.2479G>A (p.Glu827Lys)	rs760376139

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