ClinVar Miner

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

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Total variants: 46
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HGVS dbSNP
NC_000009.12:g.(?_127819602)_(127820057_?)del
NC_000009.12:g.(?_127819612)_(127820047_?)del
NC_000009.12:g.(?_127819616)_(127820043_?)del
NC_000009.12:g.(?_127819622)_(127820037_?)del
NM_000118.3(ENG):c.1195_1196del (p.Arg399fs) rs1131691422
NM_000118.3(ENG):c.1195del (p.Arg399fs) rs1131691444
NM_000118.3(ENG):c.1235G>A (p.Cys412Tyr) rs1554809513
NM_000118.3(ENG):c.1247dup (p.Ser417fs) rs1588576923
NM_000118.3(ENG):c.1268del (p.Asn423fs) rs1564453538
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.1312A>T (p.Lys438Ter) rs863223536
NM_000118.3(ENG):c.1326C>A (p.Cys442Ter) rs1554809361
NM_000118.3(ENG):c.1327del (p.Leu443fs) rs1060501413
NM_000118.3(ENG):c.1410del (p.Gln471fs) rs1085307433
NM_000118.3(ENG):c.1428+1G>A rs863223542
NM_000118.3(ENG):c.1453G>T (p.Glu485Ter) rs997074986
NM_000118.3(ENG):c.1465C>T (p.Gln489Ter) rs1057521648
NM_000118.3(ENG):c.1509del (p.Val504fs) rs1564452685
NM_000118.3(ENG):c.1646G>A (p.Cys549Tyr) rs1060501421
NM_000118.3(ENG):c.1684C>T (p.Gln562Ter) rs1588574749
NM_000118.3(ENG):c.1686+1G>A rs1554809228
NM_000118.3(ENG):c.1687-1G>T rs1554809106
NM_000118.3(ENG):c.1687delG rs1564452075
NM_000118.3(ENG):c.1689_1699del (p.Glu563Aspfs)
NM_000118.3(ENG):c.1715T>A (p.Leu572Ter) rs863223539
NM_001114753.3(ENG):c.1236T>A (p.Cys412Ter)
NM_001114753.3(ENG):c.1238del (p.Gly413fs)
NM_001114753.3(ENG):c.1273-2A>G rs373842615
NM_001114753.3(ENG):c.1276_1279delinsATAAA (p.Val426fs)
NM_001114753.3(ENG):c.1311G>A (p.Arg437=)
NM_001114753.3(ENG):c.1333dup (p.Met445fs)
NM_001114753.3(ENG):c.1426C>T (p.Gln476Ter)
NM_001114753.3(ENG):c.1434_1435del (p.Arg478fs) rs1564452747
NM_001114753.3(ENG):c.1450_1451del (p.Ser484fs)
NM_001114753.3(ENG):c.1470dup (p.Asp491fs)
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)
NM_001114753.3(ENG):c.1490T>A (p.Leu497Ter)
NM_001114753.3(ENG):c.1531del (p.Ala511fs)
NM_001114753.3(ENG):c.1626dup (p.Lys543fs)
NM_001114753.3(ENG):c.1675del (p.Ser559fs)
NM_001114753.3(ENG):c.1678C>T (p.Gln560Ter)
NM_001114753.3(ENG):c.1687-2A>G
NM_001114753.3(ENG):c.1687G>T (p.Glu563Ter)
NM_001114753.3(ENG):c.1695del (p.His565fs)
NM_001114753.3(ENG):c.1698del (p.Thr567fs)

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