List of variants reported as pathogenic for Telangiectasia, hereditary hemorrhagic, type 1 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_001114753.3(ENG):c.-9G>A	rs368423516	0.00040
NM_001114753.3(ENG):c.1134G>A (p.Ala378=)	rs1329127701	0.00003
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp)	rs1434169817	0.00001
NM_001114753.3(ENG):c.524-2A>G	rs1060501414	0.00001
NM_000118.3(ENG):c.1689_1699del (p.Glu563Aspfs)	rs1830345043
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs)	rs863223540
NM_001114753.3(ENG):c.1195_1196del (p.Arg399fs)	rs1131691422
NM_001114753.3(ENG):c.1195del (p.Arg399fs)	rs1131691444
NM_001114753.3(ENG):c.1243C>T (p.Gln415Ter)	rs1343053876
NM_001114753.3(ENG):c.1272+2T>C	rs1830431391
NM_001114753.3(ENG):c.1311G>A (p.Arg437=)	rs1554809448
NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter)	rs1830395639
NM_001114753.3(ENG):c.1428+1G>A	rs863223542
NM_001114753.3(ENG):c.142C>T (p.Gln48Ter)	rs1831082433
NM_001114753.3(ENG):c.1434_1435del (p.Arg478fs)	rs1564452747
NM_001114753.3(ENG):c.145G>T (p.Val49Phe)	rs1252348200
NM_001114753.3(ENG):c.1470dup (p.Asp491fs)	rs1830385077
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter)	rs148475405
NM_001114753.3(ENG):c.1686+1G>T	rs1554809228
NM_001114753.3(ENG):c.187G>T (p.Glu63Ter)	rs1588596830
NM_001114753.3(ENG):c.219+2T>C	rs2131918332
NM_001114753.3(ENG):c.360+1G>A	rs886039505
NM_001114753.3(ENG):c.360C>A (p.Tyr120Ter)	rs121918402
NM_001114753.3(ENG):c.361-2A>T
NM_001114753.3(ENG):c.465dup (p.Ile156fs)	rs2131890499
NM_001114753.3(ENG):c.558del (p.Ser187fs)	rs2131889490
NM_001114753.3(ENG):c.579_580del (p.Leu194fs)
NM_001114753.3(ENG):c.588G>A (p.Trp196Ter)	rs1588582860
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro)	rs1554810378
NM_001114753.3(ENG):c.667del (p.Val223fs)	rs1588582666
NM_001114753.3(ENG):c.721_725del (p.Ser241fs)	rs1064794219
NM_001114753.3(ENG):c.817-1G>C	rs1564455715
NM_001114753.3(ENG):c.838A>T (p.Lys280Ter)	rs1588581497
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)	rs1060501410

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