ClinVar Miner

List of variants in gene MPL reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.981-41G>A rs1760670 0.31103
NC_000001.11:g.43337551G>A rs710252 0.30324
NM_005373.3(MPL):c.1469-70T>C rs839995 0.29954
NM_005373.3(MPL):c.392-274G>T rs77612379 0.05125
NM_005373.3(MPL):c.690A>G (p.Glu230=) rs16830693 0.05049
NC_000001.11:g.43354522G>A rs79064184 0.03603
NM_005373.3(MPL):c.691-178C>T rs79089983 0.02540
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01329
NM_005373.3(MPL):c.1309-61T>C rs111245827 0.01021
NM_005373.3(MPL):c.1309-10C>T rs139486615 0.00561
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.391+47C>T rs839994 0.00367
NM_005373.3(MPL):c.1654-10T>A rs200460456 0.00189
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.1309-28C>G rs573364731 0.00041
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_005373.3(MPL):c.209C>T (p.Pro70Leu) rs61754776 0.00021
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.1051C>T (p.Arg351Cys) rs201998783 0.00005
NM_005373.3(MPL):c.235_236del (p.Leu79fs) rs587778514 0.00005
NM_005373.3(MPL):c.1645C>G (p.Leu549Val) rs746440317 0.00002
NM_005373.3(MPL):c.212+1G>A rs142565191 0.00002
NM_005373.3(MPL):c.775G>A (p.Glu259Lys) rs528834914 0.00002
NM_005373.3(MPL):c.1339G>C (p.Gly447Arg) rs550268500 0.00001
NM_005373.3(MPL):c.185C>T (p.Thr62Ile) rs201727975 0.00001
NM_005373.3(MPL):c.273C>T (p.Tyr91=) rs759361904 0.00001
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020 0.00001
NM_005373.3(MPL):c.368G>A (p.Arg123Gln) rs770877156 0.00001
NM_005373.3(MPL):c.1097T>C (p.Val366Ala)
NM_005373.3(MPL):c.1468+2T>C rs1057517761
NM_005373.3(MPL):c.1545G>A (p.Trp515Ter)
NM_005373.3(MPL):c.1639G>A (p.Ala547Thr) rs752258550
NM_005373.3(MPL):c.378del (p.Phe126fs) rs587778515
NM_005373.3(MPL):c.413T>C (p.Ile138Thr) rs2153916687
NM_005373.3(MPL):c.517C>G (p.Pro173Ala) rs202137992

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