ClinVar Miner

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

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP
NC_000001.11:g.(?_43349253)_(43349369_?)del
NM_005373.2(MPL):c.1069C>T (p.Arg357Ter) rs751975712
NM_005373.2(MPL):c.1194G>A (p.Trp398Ter) rs1570470199
NM_005373.2(MPL):c.127C>T (p.Arg43Ter) rs148434485
NM_005373.2(MPL):c.1422G>A (p.Trp474Ter) rs754859909
NM_005373.2(MPL):c.1462G>T (p.Glu488Ter) rs1302209849
NM_005373.2(MPL):c.1514G>A (p.Ser505Asn) rs121913614
NM_005373.2(MPL):c.1543_1544delinsAA (p.Trp515Lys) rs121913616
NM_005373.2(MPL):c.1544G>T (p.Trp515Leu) rs121913615
NM_005373.2(MPL):c.235_236del (p.Leu79fs) rs587778514
NM_005373.2(MPL):c.304C>T (p.Arg102Cys) rs763568293
NM_005373.2(MPL):c.305G>C (p.Arg102Pro) rs28928907
NM_005373.2(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005373.2(MPL):c.378del (p.Phe126fs) rs587778515
NM_005373.2(MPL):c.391+5G>C rs752453717
NM_005373.2(MPL):c.413del (p.Ile138fs) rs1343123940
NM_005373.2(MPL):c.769C>T (p.Arg257Cys) rs121913611
NM_005373.3(MPL):c.1025del (p.Pro342fs)
NM_005373.3(MPL):c.1042C>T (p.Gln348Ter)
NM_005373.3(MPL):c.1247G>A (p.Trp416Ter)
NM_005373.3(MPL):c.1263_1264del (p.Cys422fs)
NM_005373.3(MPL):c.1270C>T (p.Gln424Ter)
NM_005373.3(MPL):c.1276C>T (p.Arg426Ter)
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs)
NM_005373.3(MPL):c.1348G>T (p.Glu450Ter)
NM_005373.3(MPL):c.1474_1477dup (p.Ser493fs)
NM_005373.3(MPL):c.1563C>A (p.Tyr521Ter)
NM_005373.3(MPL):c.214G>T (p.Glu72Ter)
NM_005373.3(MPL):c.230del (p.Cys77fs)
NM_005373.3(MPL):c.252del (p.Met84fs)
NM_005373.3(MPL):c.268C>T (p.Arg90Ter)
NM_005373.3(MPL):c.273C>A (p.Tyr91Ter)
NM_005373.3(MPL):c.308del (p.Leu103fs)
NM_005373.3(MPL):c.455del (p.Ile152fs)
NM_005373.3(MPL):c.603_606del (p.His201fs)
NM_005373.3(MPL):c.79+2T>A rs146249964
NM_005373.3(MPL):c.793del (p.Leu265fs)

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