ClinVar Miner

List of variants in gene MPL reported as pathogenic by OMIM

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_005373.3(MPL):c.769C>T (p.Arg257Cys) rs121913611 0.00011
NM_005373.3(MPL):c.1473G>A (p.Trp491Ter) rs121913613 0.00001
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) rs121913615 0.00001
NM_005373.3(MPL):c.1499del (p.Leu500fs) rs1570472103
NM_005373.3(MPL):c.1514G>A (p.Ser505Asn) rs121913614
NM_005373.3(MPL):c.1543_1544delinsAA (p.Trp515Lys) rs121913616
NM_005373.3(MPL):c.1566-1G>T rs1570474015
NM_005373.3(MPL):c.1904C>T (p.Pro635Leu) rs121913612
NM_005373.3(MPL):c.556C>T (p.Gln186Ter) rs121913610
NM_005373.3(MPL):c.823C>A (p.Pro275Thr) rs28928908

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