ClinVar Miner

List of variants reported as likely benign for Thrombocythemia 1

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Total variants: 37
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HGVS dbSNP
NM_000460.4(THPO):c.*18G>A rs180680111
NM_000460.4(THPO):c.229-17_229-14dup rs55827759
NM_000460.4(THPO):c.24C>T (p.Leu8=) rs373542698
NM_000460.4(THPO):c.310C>A (p.Pro104Thr)
NM_000460.4(THPO):c.356G>A (p.Arg119His) rs143216798
NM_000460.4(THPO):c.852G>A (p.Leu284=)
NM_005373.2(MPL):c.*1054G>A rs139528456
NM_005373.2(MPL):c.*1116G>A rs144177827
NM_005373.2(MPL):c.*1126A>G rs543250497
NM_005373.2(MPL):c.*1180G>A rs117166528
NM_005373.2(MPL):c.*1486T>C rs149940158
NM_005373.2(MPL):c.*1506G>A rs115780311
NM_005373.2(MPL):c.*1603A>C rs142139493
NM_005373.2(MPL):c.*1674A>T rs536844021
NM_005373.2(MPL):c.*364C>T rs138892634
NM_005373.2(MPL):c.*400C>T rs558390922
NM_005373.2(MPL):c.*573G>A rs192016153
NM_005373.2(MPL):c.*662C>T rs1763698
NM_005373.2(MPL):c.*709C>T rs185654501
NM_005373.2(MPL):c.*748C>T rs190071085
NM_005373.2(MPL):c.*94C>A rs77858532
NM_005373.2(MPL):c.1003G>A (p.Glu335Lys) rs139770726
NM_005373.2(MPL):c.1102G>T (p.Val368Leu) rs149810307
NM_005373.2(MPL):c.1120A>G (p.Thr374Ala) rs190983971
NM_005373.2(MPL):c.117G>T (p.Lys39Asn) rs17292650
NM_005373.2(MPL):c.1565+5C>T rs41269541
NM_005373.2(MPL):c.1570C>T (p.Leu524=) rs146372205
NM_005373.2(MPL):c.1609C>T (p.Arg537Trp) rs148784027
NM_005373.2(MPL):c.1653+3G>A rs149625825
NM_005373.2(MPL):c.1654-10T>A rs200460456
NM_005373.2(MPL):c.1666G>T (p.Val556Phe) rs150004498
NM_005373.2(MPL):c.1794C>T (p.Cys598=) rs143457144
NM_005373.2(MPL):c.210G>A (p.Pro70=) rs6086
NM_005373.2(MPL):c.543T>C (p.Gly181=) rs17572791
NM_005373.2(MPL):c.690+11C>T rs144769485
NM_005373.2(MPL):c.854-3T>C rs201514537
NM_005373.2(MPL):c.962G>A (p.Arg321Gln) rs149265851

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