ClinVar Miner

List of variants in gene ENG studied for Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001114753.3(ENG):c.1804del (p.Ile602fs)	rs1085307435
NM_001114753.3(ENG):c.682_686del (p.Ser228fs)	rs1085307430
NM_001114753.3(ENG):c.788T>A (p.Ile263Asn)	rs1085307431

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