ClinVar Miner

List of variants in gene MPL studied for Inborn genetic diseases

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.1570C>T (p.Leu524=) rs146372205 0.00053
NM_005373.3(MPL):c.1841G>C (p.Gly614Ala) rs138450235 0.00031
NM_005373.3(MPL):c.1432T>A (p.Ser478Thr) rs781129632 0.00008
NM_005373.3(MPL):c.252G>A (p.Met84Ile) rs769803049 0.00005
NM_005373.3(MPL):c.1640C>T (p.Ala547Val) rs572129852 0.00003
NM_005373.3(MPL):c.1652C>T (p.Pro551Leu) rs971379181 0.00003
NM_005373.3(MPL):c.1058A>G (p.His353Arg) rs756953598 0.00002
NM_005373.3(MPL):c.1302C>A (p.Asp434Glu) rs757381016 0.00002
NM_005373.3(MPL):c.1664C>T (p.Thr555Ile) rs971458513 0.00002
NM_005373.3(MPL):c.1114C>T (p.Pro372Ser) rs1647057567 0.00001
NM_005373.3(MPL):c.1154T>C (p.Ile385Thr) rs771719278 0.00001
NM_005373.3(MPL):c.1204T>C (p.Ser402Pro) rs147608148 0.00001
NM_005373.3(MPL):c.1436A>G (p.Asp479Gly) rs1647074146 0.00001
NM_005373.3(MPL):c.1631G>A (p.Arg544Lys) rs372747889 0.00001
NM_005373.3(MPL):c.1649G>A (p.Ser550Asn) rs1419808054 0.00001
NM_005373.3(MPL):c.251T>C (p.Met84Thr) rs748641693 0.00001
NM_005373.3(MPL):c.401C>T (p.Ala134Val) rs375532666 0.00001
NM_005373.3(MPL):c.515G>T (p.Gly172Val) rs765939441 0.00001
NM_005373.3(MPL):c.57C>A (p.Asn19Lys) rs752706183 0.00001
NM_005373.3(MPL):c.583C>T (p.Pro195Ser) rs1285879713 0.00001
NM_005373.3(MPL):c.584C>G (p.Pro195Arg) rs916152553 0.00001
NM_005373.3(MPL):c.632G>A (p.Cys211Tyr) rs771639707 0.00001
NM_005373.3(MPL):c.809G>A (p.Gly270Glu) rs1361284210 0.00001
NM_005373.3(MPL):c.1196G>A (p.Arg399Lys)
NM_005373.3(MPL):c.1199A>C (p.Glu400Ala) rs776668472
NM_005373.3(MPL):c.1241C>G (p.Ser414Trp) rs772102737
NM_005373.3(MPL):c.1361G>A (p.Arg454Gln) rs2153919250
NM_005373.3(MPL):c.1392G>C (p.Arg464Ser)
NM_005373.3(MPL):c.154T>C (p.Trp52Arg) rs2153916250
NM_005373.3(MPL):c.1562A>G (p.Tyr521Cys) rs763924501
NM_005373.3(MPL):c.1753T>C (p.Ser585Pro) rs1647101031
NM_005373.3(MPL):c.22A>C (p.Met8Leu)
NM_005373.3(MPL):c.266C>T (p.Thr89Ile)
NM_005373.3(MPL):c.435C>A (p.Ser145Arg) rs757759824
NM_005373.3(MPL):c.517C>G (p.Pro173Ala) rs202137992
NM_005373.3(MPL):c.556C>G (p.Gln186Glu) rs121913610
NM_005373.3(MPL):c.684T>A (p.Ser228Arg) rs766536759
NM_005373.3(MPL):c.730T>C (p.Ser244Pro) rs368330272
NM_005373.3(MPL):c.916C>G (p.Gln306Glu)

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