ClinVar Miner

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

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Total variants: 42
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HGVS dbSNP
NM_000118.3(ENG):c.1154C>T (p.Thr385Met) rs199764615
NM_000118.3(ENG):c.1166_1168del (p.Phe389del) rs1588577016
NM_000118.3(ENG):c.1274C>A (p.Ala425Glu) rs369997021
NM_000118.3(ENG):c.1274C>T (p.Ala425Val) rs369997021
NM_000118.3(ENG):c.1313A>G (p.Lys438Arg) rs755962839
NM_000118.3(ENG):c.1316A>C (p.Lys439Thr) rs368533266
NM_000118.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_000118.3(ENG):c.1335G>A (p.Met445Ile) rs777564305
NM_000118.3(ENG):c.1469T>C (p.Leu490Ser) rs763475207
NM_000118.3(ENG):c.1585C>T (p.Arg529Cys) rs745316066
NM_000118.3(ENG):c.1672G>A (p.Gly558Arg) rs373230507
NM_000118.3(ENG):c.1726A>G (p.Ser576Gly) rs1564452024
NM_001114753.3(ENG):c.1135C>A (p.His379Asn)
NM_001114753.3(ENG):c.1153A>C (p.Thr385Pro)
NM_001114753.3(ENG):c.1171G>C (p.Asp391His)
NM_001114753.3(ENG):c.1177A>G (p.Ser393Gly)
NM_001114753.3(ENG):c.1181G>A (p.Cys394Tyr)
NM_001114753.3(ENG):c.1195A>G (p.Arg399Gly)
NM_001114753.3(ENG):c.1197G>C (p.Arg399Ser)
NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser)
NM_001114753.3(ENG):c.1234T>G (p.Cys412Gly)
NM_001114753.3(ENG):c.1258A>G (p.Met420Val)
NM_001114753.3(ENG):c.1273-4_1273-3delinsAA
NM_001114753.3(ENG):c.1276G>A (p.Val426Met)
NM_001114753.3(ENG):c.1295G>A (p.Ser432Asn)
NM_001114753.3(ENG):c.1295G>C (p.Ser432Thr)
NM_001114753.3(ENG):c.1336G>A (p.Asp446Asn)
NM_001114753.3(ENG):c.1357G>C (p.Gly453Arg)
NM_001114753.3(ENG):c.1385A>G (p.Gln462Arg)
NM_001114753.3(ENG):c.1390T>A (p.Ser464Thr)
NM_001114753.3(ENG):c.1393A>G (p.Asn465Asp)
NM_001114753.3(ENG):c.1427A>G (p.Gln476Arg)
NM_001114753.3(ENG):c.1534G>A (p.Ala512Thr)
NM_001114753.3(ENG):c.1538A>G (p.Lys513Arg)
NM_001114753.3(ENG):c.1565C>T (p.Pro522Leu)
NM_001114753.3(ENG):c.1637C>T (p.Thr546Ile)
NM_001114753.3(ENG):c.1695T>A (p.His565Gln)
NM_001114753.3(ENG):c.1710G>T (p.Met570Ile)
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys) rs764262721
NM_001114753.3(ENG):c.1724T>C (p.Ile575Thr)
NM_001114753.3(ENG):c.1725C>G (p.Ile575Met)
NM_001114753.3(ENG):c.1730C>G (p.Pro577Arg)

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