ClinVar Miner

List of variants reported as uncertain significance for Hereditary hemorrhagic telangiectasia type 1 by Invitae

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Total variants: 37
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HGVS dbSNP
NM_000118.3(ENG):c.1036C>T (p.Pro346Ser) rs1554810062
NM_000118.3(ENG):c.1160T>C (p.Leu387Pro) rs1564453623
NM_000118.3(ENG):c.1217G>A (p.Arg406His) rs149065210
NM_000118.3(ENG):c.1252G>C (p.Ala418Pro) rs150293362
NM_000118.3(ENG):c.1259T>C (p.Met420Thr) rs766272638
NM_000118.3(ENG):c.1311+6A>G rs1060501416
NM_000118.3(ENG):c.1406C>T (p.Pro469Leu) rs367753784
NM_000118.3(ENG):c.1408G>C (p.Gly470Arg) rs756263325
NM_000118.3(ENG):c.1428+5C>A rs1564452925
NM_000118.3(ENG):c.1434A>T (p.Arg478Ser) rs778561832
NM_000118.3(ENG):c.1441C>T (p.Pro481Ser) rs1554809289
NM_000118.3(ENG):c.1592G>A (p.Ser531Asn) rs780884220
NM_000118.3(ENG):c.1682A>C (p.Asp561Ala) rs375965489
NM_000118.3(ENG):c.1699A>G (p.Thr567Ala) rs1554809101
NM_000118.3(ENG):c.1702G>A (p.Val568Ile) rs781201877
NM_000118.3(ENG):c.1780G>A (p.Gly594Ser) rs1060501409
NM_000118.3(ENG):c.185T>A (p.Leu62His) rs1060501424
NM_000118.3(ENG):c.217A>G (p.Thr73Ala) rs1472137141
NM_000118.3(ENG):c.219+3G>A rs1419279746
NM_000118.3(ENG):c.310A>G (p.Ser104Gly) rs757343854
NM_000118.3(ENG):c.360C>T (p.Tyr120=) rs121918402
NM_000118.3(ENG):c.396_397delinsAA (p.Val133Ile) rs1554810507
NM_000118.3(ENG):c.539C>T (p.Ser180Phe) rs375025857
NM_000118.3(ENG):c.565G>T (p.Asp189Tyr) rs147792018
NM_000118.3(ENG):c.578C>T (p.Thr193Met) rs775442178
NM_000118.3(ENG):c.583G>C (p.Glu195Gln) rs1255912441
NM_000118.3(ENG):c.614G>A (p.Arg205Gln) rs751778614
NM_000118.3(ENG):c.673C>G (p.Pro225Ala) rs1554810373
NM_000118.3(ENG):c.68-4A>G rs1564462843
NM_000118.3(ENG):c.680A>G (p.His227Arg) rs377548944
NM_000118.3(ENG):c.722G>A (p.Ser241Asn) rs1060501411
NM_000118.3(ENG):c.754A>T (p.Ile252Phe) rs377377549
NM_000118.3(ENG):c.782G>T (p.Trp261Leu) rs1060501420
NM_000118.3(ENG):c.7C>G (p.Arg3Gly) rs139334561
NM_000118.3(ENG):c.805A>G (p.Met269Val) rs1323617205
NM_000118.3(ENG):c.839A>G (p.Lys280Arg) rs774709924
NM_001114753.3(ENG):c.1721TCA[1] (p.Ile575del) rs777038953

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