ClinVar Miner

List of variants in gene combination ENG, LOC102723566 reported as pathogenic for Hereditary hemorrhagic telangiectasia type 1

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Gene type:
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Total variants: 42
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HGVS dbSNP
NC_000009.12:g.(?_127815012)_(127854773_?)del
NC_000009.12:g.(?_127815662)_(127820057_?)del
NM_000118.3(ENG):c.1169G>A (p.Trp390Ter) rs1564453619
NM_000118.3(ENG):c.1195_1196del (p.Arg399fs) rs1131691422
NM_000118.3(ENG):c.1195del (p.Arg399fs) rs1131691444
NM_000118.3(ENG):c.1199del (p.Gly400fs) rs1060501422
NM_000118.3(ENG):c.1235_1687-78del
NM_000118.3(ENG):c.1238G>T (p.Gly413Val) rs121918401
NM_000118.3(ENG):c.1243C>T (p.Gln415Ter) rs1343053876
NM_000118.3(ENG):c.1286dup (p.Leu430fs) rs1554809455
NM_000118.3(ENG):c.1306C>T (p.Gln436Ter) rs1554809450
NM_000118.3(ENG):c.1309C>T (p.Arg437Trp) rs1434169817
NM_000118.3(ENG):c.1311G>C (p.Arg437=) rs1554809448
NM_000118.3(ENG):c.1311dupG rs1554809446
NM_000118.3(ENG):c.1334del (p.Met445fs) rs1085307432
NM_000118.3(ENG):c.1351C>T (p.Gln451Ter) rs1554809355
NM_000118.3(ENG):c.1394dup (p.Asn465fs) rs1554809348
NM_000118.3(ENG):c.1415_1424del (p.Gln472fs) rs1060501412
NM_000118.3(ENG):c.1428+1G>A rs863223542
NM_000118.3(ENG):c.1428+2T>A rs863223543
NM_000118.3(ENG):c.1515dup (p.Leu506fs) rs1564452667
NM_000118.3(ENG):c.1541del (p.Gly514fs) rs1554809268
NM_000118.3(ENG):c.1672_1684del (p.Gly558fs) rs1554809229
NM_000118.3(ENG):c.1689_1699del (p.Glu563Aspfs)
NM_001114753.2(ENG):c.1415_1417delinsGT (p.Gln472fs) rs1554809331
NM_001114753.3(ENG):c.1183G>T (p.Glu395Ter)
NM_001114753.3(ENG):c.1272+2T>C
NM_001114753.3(ENG):c.1273-2A>G rs373842615
NM_001114753.3(ENG):c.1273-2A>T
NM_001114753.3(ENG):c.1311G>A (p.Arg437=)
NM_001114753.3(ENG):c.1346_1347del (p.Ser449fs) rs1564453019
NM_001114753.3(ENG):c.1365C>A (p.Tyr455Ter)
NM_001114753.3(ENG):c.1384C>T (p.Gln462Ter)
NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter)
NM_001114753.3(ENG):c.1437_1456dup (p.Phe486fs)
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)
NM_001114753.3(ENG):c.1490dup (p.Leu497fs)
NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter)
NM_001114753.3(ENG):c.1553_1554del (p.Ser518fs)
NM_001114753.3(ENG):c.1582_1583del (p.Pro528fs)
NM_001114753.3(ENG):c.1626del (p.Thr544fs)
Single allele

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