List of variants reported as pathogenic for Telangiectasia, hereditary hemorrhagic, type 2 by OMIM

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Total variants: 14

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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.1450C>T (p.Arg484Trp)	rs121909288	0.00001
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr)	rs28936688
NM_000020.3(ACVRL1):c.1113_1114insG (p.Thr372fs)	rs387906394
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)	rs28936401
NM_000020.3(ACVRL1):c.1127T>G (p.Met376Arg)	rs28936399
NM_000020.3(ACVRL1):c.1193T>A (p.Ile398Asn)	rs121909286
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp)	rs121909287
NM_000020.3(ACVRL1):c.1232G>C (p.Arg411Pro)	rs121909284
NM_000020.3(ACVRL1):c.1378-216C>G	rs111710113
NM_000020.3(ACVRL1):c.143_147delinsAGCCT (p.Gly48_Ala49delinsGluPro)	rs387906392
NM_000020.3(ACVRL1):c.150G>T (p.Trp50Cys)	rs121909285
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del)	rs387906391
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del)	rs387906393

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