List of variants reported as benign for Telangiectasia, hereditary hemorrhagic, type 2 by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_000020.3(ACVRL1):c.*1246T>C	rs706819	0.71921
NM_000020.3(ACVRL1):c.313+11C>T	rs2071218	0.45979
NM_000020.3(ACVRL1):c.*560T>C	rs706818	0.31441
NM_000020.3(ACVRL1):c.*1926T>C	rs2293094	0.13660
NM_000020.3(ACVRL1):c.*869C>T	rs113690319	0.12912
NM_000020.3(ACVRL1):c.*913C>T	rs75074181	0.12876
NM_000020.3(ACVRL1):c.*2398G>A	rs2293092	0.11085
NM_000020.3(ACVRL1):c.*2380C>G	rs2293093	0.08542
NM_000020.3(ACVRL1):c.*1021T>C	rs697631	0.05250
NM_000020.3(ACVRL1):c.*949C>T	rs810052	0.05244
NM_000020.3(ACVRL1):c.747G>A (p.Val249=)	rs1058563	0.04166
NM_000020.3(ACVRL1):c.*2313G>A	rs61914025	0.02816
NM_000020.3(ACVRL1):c.*862G>A	rs116256992	0.02136
NM_000020.3(ACVRL1):c.*58G>A	rs182368657	0.01817
NM_000020.3(ACVRL1):c.*1560A>C	rs80260084	0.01740
NM_000020.3(ACVRL1):c.*2422A>G	rs706820	0.01556
NM_000020.3(ACVRL1):c.*1776C>T	rs78150616	0.01548
NM_000020.3(ACVRL1):c.330G>A (p.Ser110=)	rs77341011	0.01461
NM_000020.3(ACVRL1):c.-46C>G	rs190953189	0.01297
NM_000020.3(ACVRL1):c.*935G>C	rs116740271	0.01206
NM_000020.3(ACVRL1):c.1246+9C>T	rs115378744	0.00958
NM_000020.3(ACVRL1):c.*1041G>T	rs199949661	0.00887
NM_000020.3(ACVRL1):c.*423C>T	rs114741844	0.00592
NM_000020.3(ACVRL1):c.*499T>G	rs572632343	0.00446
NM_000020.3(ACVRL1):c.*992A>G	rs567585207	0.00409
NM_000020.3(ACVRL1):c.*2281G>T	rs114323941	0.00374
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)	rs139142865	0.00203
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=)	rs56080682	0.00063
NM_000020.3(ACVRL1):c.817C>T (p.Leu273=)	rs55802125	0.00024
NM_000020.3(ACVRL1):c.*1042C>G	rs56683171
NM_000020.3(ACVRL1):c.*1042C>T	rs56683171

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