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

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001114753.3(ENG):c.1510G>A (p.Val504Met)	rs116330805	0.00311
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)	rs139142865	0.00203
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)	rs148002300	0.00134
NM_000020.3(ACVRL1):c.1348A>G (p.Thr450Ala)	rs146206499	0.00031
NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser)	rs149664056	0.00031
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp)	rs199874575	0.00014
NM_001114753.3(ENG):c.1316A>C (p.Lys439Thr)	rs368533266	0.00005
NM_001114753.3(ENG):c.816+3G>T

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