ClinVar Miner

List of variants in gene MPL reported as likely pathogenic for bone marrow cancer

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
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.311T>C (p.Phe104Ser) rs1196161699 0.00001
NM_005373.3(MPL):c.981-1G>C rs769297582 0.00001
NM_005373.3(MPL):c.1165+1G>C rs775550081
NM_005373.3(MPL):c.1166-1G>C rs2153918730
NM_005373.3(MPL):c.1305G>C (p.Trp435Cys)
NM_005373.3(MPL):c.1308+2T>G
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.1513A>T (p.Ser505Cys) rs1057519752
NM_005373.3(MPL):c.1514G>A (p.Ser505Asn) rs121913614
NM_005373.3(MPL):c.212+1G>A rs142565191
NM_005373.3(MPL):c.213-1G>A
NM_005373.3(MPL):c.305G>A (p.Arg102His) rs28928907
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005373.3(MPL):c.407C>A (p.Pro136His) rs764904424
NM_005373.3(MPL):c.690+2T>A rs2153916885
NM_005373.3(MPL):c.690+2T>C
NM_005373.3(MPL):c.79+1G>A
NM_005373.3(MPL):c.79+1G>T rs1647004958
NM_005373.3(MPL):c.854-1G>A
NM_005373.3(MPL):c.980+2T>A rs1647023010

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