List of variants reported as pathogenic for developmental defect during embryogenesis by ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)	rs121909284	0.00001
NM_000020.3(ACVRL1):c.1217G>A (p.Trp406Ter)	rs1060503235
NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter)	rs1085307429
NM_000020.3(ACVRL1):c.620del (p.Cys207fs)
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys)	rs1592223490
NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile)	rs863223413
NM_001114753.3(ENG):c.1701del (p.Val568fs)	rs1564452060
NM_001114753.3(ENG):c.2T>G (p.Met1Arg)	rs267606783
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys)	rs878853657
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)	rs1060501410

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