ClinVar Miner

List of variants in gene MPL reported as likely pathogenic for myeloproliferative neoplasm

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_005373.3(MPL):c.391+5G>C rs752453717 0.00012
NM_005373.3(MPL):c.230del (p.Cys77fs) rs1291157023 0.00003
NM_005373.3(MPL):c.1744_1745del (p.Leu582fs) rs770402221 0.00002
NM_005373.3(MPL):c.460T>C (p.Trp154Arg) rs758428763 0.00002
NM_005373.3(MPL):c.1309-1G>T rs1243113655 0.00001
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter) rs1169744090 0.00001
NM_005373.3(MPL):c.1566-1G>A rs1570474015 0.00001
NM_005373.3(MPL):c.1774C>T (p.Arg592Ter) rs755447085 0.00001
NM_005373.3(MPL):c.311T>C (p.Phe104Ser) rs1196161699 0.00001
NM_005373.3(MPL):c.981-1G>C rs769297582 0.00001
NM_005373.3(MPL):c.1033C>T (p.Gln345Ter)
NM_005373.3(MPL):c.1035_1042del (p.Thr346fs)
NM_005373.3(MPL):c.1095del (p.Val366fs)
NM_005373.3(MPL):c.1165+1G>C rs775550081
NM_005373.3(MPL):c.1166-1G>C rs2153918730
NM_005373.3(MPL):c.1166_1169dup
NM_005373.3(MPL):c.1305G>C (p.Trp435Cys)
NM_005373.3(MPL):c.1308+2T>G
NM_005373.3(MPL):c.1365_1366del (p.Arg456fs)
NM_005373.3(MPL):c.1468+1G>A
NM_005373.3(MPL):c.1468+2T>C rs1057517761
NM_005373.3(MPL):c.1469-1G>T rs771729218
NM_005373.3(MPL):c.1469-2A>T
NM_005373.3(MPL):c.1545G>A (p.Trp515Ter)
NM_005373.3(MPL):c.1629del (p.Arg544fs)
NM_005373.3(MPL):c.1653+1G>C
NM_005373.3(MPL):c.1654-1G>A
NM_005373.3(MPL):c.1904C>T (p.Pro635Leu) rs121913612
NM_005373.3(MPL):c.212+1G>A rs142565191
NM_005373.3(MPL):c.213-1G>A
NM_005373.3(MPL):c.256del (p.His86fs)
NM_005373.3(MPL):c.273C>A (p.Tyr91Ter) rs759361904
NM_005373.3(MPL):c.305G>A (p.Arg102His) rs28928907
NM_005373.3(MPL):c.308del (p.Leu103fs) rs1361003749
NM_005373.3(MPL):c.407C>A (p.Pro136His) rs764904424
NM_005373.3(MPL):c.407C>G (p.Pro136Arg)
NM_005373.3(MPL):c.690+1G>A
NM_005373.3(MPL):c.690+2T>A rs2153916885
NM_005373.3(MPL):c.690+2T>C
NM_005373.3(MPL):c.733G>T (p.Gly245Ter)
NM_005373.3(MPL):c.775G>T (p.Glu259Ter)
NM_005373.3(MPL):c.79+1G>A
NM_005373.3(MPL):c.79+1G>T rs1647004958
NM_005373.3(MPL):c.821del (p.Leu274fs)
NM_005373.3(MPL):c.853+1G>A
NM_005373.3(MPL):c.854-1G>A
NM_005373.3(MPL):c.972del (p.Arg325fs) rs770457041
NM_005373.3(MPL):c.980+2T>A rs1647023010
NM_005373.3(MPL):c.981-1G>T
NM_005373.3(MPL):c.993_996delinsA (p.Trp331_Glu332delinsTer)

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