ClinVar Miner

List of variants in gene MPL studied for Thrombocythemia 1

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Gene type:
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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.690A>G (p.Glu230=) rs16830693 0.05049
NM_005373.3(MPL):c.*662C>T rs1763698 0.02711
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01329
NM_005373.3(MPL):c.*1054G>A rs139528456 0.01153
NM_005373.3(MPL):c.543T>C (p.Gly181=) rs17572791 0.00819
NM_005373.3(MPL):c.*709C>T rs185654501 0.00737
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_005373.3(MPL):c.210G>A (p.Pro70=) rs6086 0.00452
NM_005373.3(MPL):c.*1506G>A rs115780311 0.00362
NM_005373.3(MPL):c.1653+3G>A rs149625825 0.00334
NM_005373.3(MPL):c.*364C>T rs138892634 0.00233
NM_005373.3(MPL):c.1654-10T>A rs200460456 0.00189
NM_005373.3(MPL):c.*1603A>C rs142139493 0.00182
NM_005373.3(MPL):c.*1180G>A rs117166528 0.00181
NM_005373.3(MPL):c.*1116G>A rs144177827 0.00175
NM_005373.3(MPL):c.*573G>A rs192016153 0.00138
NM_005373.3(MPL):c.*748C>T rs190071085 0.00133
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala) rs190983971 0.00125
NM_005373.3(MPL):c.962G>A (p.Arg321Gln) rs149265851 0.00072
NM_005373.3(MPL):c.1003G>A (p.Glu335Lys) rs139770726 0.00059
NM_005373.3(MPL):c.*94C>A rs77858532 0.00056
NM_005373.3(MPL):c.1570C>T (p.Leu524=) rs146372205 0.00053
NM_005373.3(MPL):c.*657C>T rs886046352 0.00048
NM_005373.3(MPL):c.*871G>A rs540648773 0.00044
NM_005373.3(MPL):c.*1112G>A rs543515941 0.00039
NM_005373.3(MPL):c.1102G>T (p.Val368Leu) rs149810307 0.00039
NM_005373.3(MPL):c.1794C>T (p.Cys598=) rs143457144 0.00025
NM_005373.3(MPL):c.1666G>T (p.Val556Phe) rs150004498 0.00023
NM_005373.3(MPL):c.*1486T>C rs149940158 0.00020
NM_005373.3(MPL):c.690+11C>T rs144769485 0.00012
NM_005373.3(MPL):c.*1674A>T rs536844021 0.00011
NM_005373.3(MPL):c.*86C>T rs777930147 0.00010
NM_005373.3(MPL):c.1467C>T (p.Thr489=) rs759161511 0.00009
NM_005373.3(MPL):c.*971G>A rs886046355 0.00007
NM_005373.3(MPL):c.*882C>T rs777894453 0.00006
NM_005373.3(MPL):c.1051C>T (p.Arg351Cys) rs201998783 0.00005
NM_005373.3(MPL):c.*400C>T rs558390922 0.00004
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp) rs148784027 0.00003
NM_005373.3(MPL):c.1238C>T (p.Pro413Leu) rs886046350 0.00001
NM_005373.3(MPL):c.1331C>A (p.Ala444Asp) rs886046351 0.00001
NM_005373.3(MPL):c.1337G>A (p.Gly446Glu) rs561724539 0.00001
NM_005373.3(MPL):c.854-3T>C rs201514537 0.00001
NM_005373.3(MPL):c.95C>T (p.Ala32Val) rs886046348 0.00001
NM_005373.3(MPL):c.*1126A>G rs543250497
NM_005373.3(MPL):c.*1216A>G rs886046356
NM_005373.3(MPL):c.*1351T>C rs886046357
NM_005373.3(MPL):c.*1506G>C rs115780311
NM_005373.3(MPL):c.*701_*705dup rs752218261
NM_005373.3(MPL):c.*705del rs752218261
NM_005373.3(MPL):c.*924C>G rs886046354
NM_005373.3(MPL):c.196C>T (p.Leu66=) rs886046349

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