ClinVar Miner

List of variants in gene MPL reported as uncertain significance for connective tissue neoplasm

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP
NM_005373.2(MPL):c.*1112G>A rs543515941
NM_005373.2(MPL):c.*1216A>G rs886046356
NM_005373.2(MPL):c.*1351T>C rs886046357
NM_005373.2(MPL):c.*1506G>C rs115780311
NM_005373.2(MPL):c.*657C>T rs886046352
NM_005373.2(MPL):c.*701_*705dup rs752218261
NM_005373.2(MPL):c.*705del rs752218261
NM_005373.2(MPL):c.*86C>T rs777930147
NM_005373.2(MPL):c.*871G>A rs540648773
NM_005373.2(MPL):c.*882C>T rs777894453
NM_005373.2(MPL):c.*924C>G rs886046354
NM_005373.2(MPL):c.*971G>A rs886046355
NM_005373.2(MPL):c.1051C>T (p.Arg351Cys) rs201998783
NM_005373.2(MPL):c.1102G>T (p.Val368Leu) rs149810307
NM_005373.2(MPL):c.1178C>T (p.Thr393Ile) rs779132175
NM_005373.2(MPL):c.1238C>T (p.Pro413Leu) rs886046350
NM_005373.2(MPL):c.1331C>A (p.Ala444Asp) rs886046351
NM_005373.2(MPL):c.1336G>A (p.Gly446Arg) rs561818288
NM_005373.2(MPL):c.1337G>A (p.Gly446Glu) rs561724539
NM_005373.2(MPL):c.1460C>T (p.Thr487Ile) rs770428240
NM_005373.2(MPL):c.1467C>T (p.Thr489=) rs759161511
NM_005373.2(MPL):c.1473G>C (p.Trp491Cys) rs121913613
NM_005373.2(MPL):c.1544G>T (p.Trp515Leu) rs121913615
NM_005373.2(MPL):c.1609C>T (p.Arg537Trp) rs148784027
NM_005373.2(MPL):c.173C>T (p.Ala58Val) rs6087
NM_005373.2(MPL):c.1744_1745del (p.Leu582fs) rs770402221
NM_005373.2(MPL):c.1805T>C (p.Met602Thr) rs770770219
NM_005373.2(MPL):c.196C>T (p.Leu66=) rs886046349
NM_005373.2(MPL):c.212G>A (p.Arg71Gln) rs368753117
NM_005373.2(MPL):c.622C>A (p.Gln208Lys) rs111460954
NM_005373.2(MPL):c.655C>G (p.Gln219Glu) rs142737453
NM_005373.2(MPL):c.844G>A (p.Gly282Arg) rs878854770
NM_005373.2(MPL):c.92T>C (p.Leu31Pro) rs878854771
NM_005373.2(MPL):c.95C>T (p.Ala32Val) rs886046348
NM_005373.3(MPL):c.1169G>A (p.Arg390His)
NM_005373.3(MPL):c.1610G>A (p.Arg537Gln)
NM_005373.3(MPL):c.1653+1del rs755257605
NM_005373.3(MPL):c.1664C>T (p.Thr555Ile)
NM_005373.3(MPL):c.464A>T (p.Glu155Val)
NM_005373.3(MPL):c.548C>T (p.Thr183Met)
NM_005373.3(MPL):c.809G>A (p.Gly270Glu)
NM_005373.3(MPL):c.932C>T (p.Ser311Phe)
NM_005373.3(MPL):c.988A>T (p.Ile330Phe)

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