ClinVar Miner

List of variants studied for Telangiectasia, hereditary hemorrhagic, type 2 by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056 0.00031
NM_000020.3(ACVRL1):c.948G>C (p.Glu316Asp) rs145300204 0.00004
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284 0.00001
NM_000020.3(ACVRL1):c.1037_1039del (p.Ile346_Ala347delinsThr) rs1940813707
NM_000020.3(ACVRL1):c.1041del (p.Asp348fs) rs1940813766
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.3(ACVRL1):c.1153A>C (p.Ile385Leu) rs1205407812
NM_000020.3(ACVRL1):c.1171G>T (p.Glu391Ter) rs1940836063
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.3(ACVRL1):c.1246+5G>A rs1940838881
NM_000020.3(ACVRL1):c.1298C>A (p.Pro433His) rs1940907270
NM_000020.3(ACVRL1):c.139dup (p.Arg47fs) rs1940731944
NM_000020.3(ACVRL1):c.1427C>G (p.Pro476Arg) rs1940955941
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.3(ACVRL1):c.1448del (p.Leu483fs) rs1940958854
NM_000020.3(ACVRL1):c.1457AGA[1] (p.Lys487del) rs1940959480
NM_000020.3(ACVRL1):c.1459A>C (p.Lys487Gln) rs1940959530
NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter) rs1085307429
NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln) rs863223414
NM_000020.3(ACVRL1):c.259del (p.His87fs) rs1940739463
NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr) rs863223410
NM_000020.3(ACVRL1):c.375dup (p.Val126fs) rs1940751760
NM_000020.3(ACVRL1):c.475G>T (p.Glu159Ter) rs1940756257
NM_000020.3(ACVRL1):c.626-2A>G rs1940780382
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp) rs28936687
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys) rs750085854
NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg) rs750085854
NM_000020.3(ACVRL1):c.848G>T (p.Gly283Val) rs1940804461
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro) rs1565594217
NM_000020.3(ACVRL1):c.916_917insTCA (p.Ala306delinsValThr) rs1940807412

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