ClinVar Miner

List of variants in gene MPI reported as pathogenic for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489 0.00021
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr) rs369326210 0.00003
NM_002435.3(MPI):c.305C>T (p.Ser102Leu) rs104894494 0.00003
NM_002435.3(MPI):c.884G>A (p.Arg295His) rs28928906 0.00003
NM_002435.3(MPI):c.264del (p.Asp88fs) rs868127074 0.00002
NM_002435.3(MPI):c.1253G>A (p.Arg418His) rs863225087 0.00001
NM_002435.3(MPI):c.13C>T (p.Arg5Ter) rs1452559752 0.00001
NM_002435.3(MPI):c.166C>T (p.Arg56Ter) rs757168691 0.00001
NM_002435.3(MPI):c.251C>G (p.Ser84Ter) rs978284448 0.00001
NM_002435.3(MPI):c.488-1G>C rs759579169 0.00001
NM_002435.3(MPI):c.652A>T (p.Lys218Ter) rs1057516424 0.00001
NM_002435.3(MPI):c.718C>T (p.Gln240Ter) rs776340315 0.00001
NC_000015.9:g.(?_75189332)_(75190071_?)del
NM_002435.3(MPI):c.1001_1002dup (p.Leu335fs)
NM_002435.3(MPI):c.1006_1007del (p.Ser336fs)
NM_002435.3(MPI):c.1022del (p.Pro341fs)
NM_002435.3(MPI):c.1022dup (p.Val342fs) rs765310894
NM_002435.3(MPI):c.1034dup (p.Thr346fs) rs2141208718
NM_002435.3(MPI):c.1053+2T>C rs2141208760
NM_002435.3(MPI):c.1058del (p.Pro353fs)
NM_002435.3(MPI):c.1064_1065del (p.Ser355fs) rs2064839839
NM_002435.3(MPI):c.1087del (p.Ala363fs) rs2141209567
NM_002435.3(MPI):c.1120C>T (p.Gln374Ter)
NM_002435.3(MPI):c.1137_1140del (p.Ser380fs)
NM_002435.3(MPI):c.1166del (p.Pro389fs)
NM_002435.3(MPI):c.1205A>G (p.Glu402Gly) rs863225086
NM_002435.3(MPI):c.122del (p.Ala41fs)
NM_002435.3(MPI):c.150G>A (p.Trp50Ter) rs1406722622
NM_002435.3(MPI):c.166dup (p.Arg56fs) rs786204593
NM_002435.3(MPI):c.206del (p.Lys69fs)
NM_002435.3(MPI):c.222G>A (p.Trp74Ter)
NM_002435.3(MPI):c.335_338del (p.His112fs) rs2141197839
NM_002435.3(MPI):c.339_342dup (p.Lys115Ter) rs1661886822
NM_002435.3(MPI):c.370dup (p.Gln124fs)
NM_002435.3(MPI):c.413T>C (p.Met138Thr) rs104894495
NM_002435.3(MPI):c.43C>T (p.Gln15Ter)
NM_002435.3(MPI):c.43_44insCTGGGGGA (p.Gln15fs)
NM_002435.3(MPI):c.44del (p.Gln15fs)
NM_002435.3(MPI):c.490del (p.Val164fs)
NM_002435.3(MPI):c.593dup (p.Ser199fs)
NM_002435.3(MPI):c.612_615del (p.Ser204fs)
NM_002435.3(MPI):c.613G>T (p.Glu205Ter)
NM_002435.3(MPI):c.631del (p.Glu211fs) rs1374119101
NM_002435.3(MPI):c.647_650del (p.Leu215_Leu216insTer) rs2141200617
NM_002435.3(MPI):c.657del (p.Ile220fs)
NM_002435.3(MPI):c.65del (p.Gly22fs)
NM_002435.3(MPI):c.679G>T (p.Gly227Ter)
NM_002435.3(MPI):c.706dup (p.Glu236fs)
NM_002435.3(MPI):c.713del (p.Leu238fs) rs745432667
NM_002435.3(MPI):c.727C>T (p.Gln243Ter) rs749911553
NM_002435.3(MPI):c.745dup (p.Ile249fs) rs2141206676
NM_002435.3(MPI):c.751del (p.Cys251fs)
NM_002435.3(MPI):c.753del (p.Phe252fs) rs2141206722
NM_002435.3(MPI):c.764_776del (p.Tyr255fs)
NM_002435.3(MPI):c.792dup (p.Gly265fs)
NM_002435.3(MPI):c.820dup (p.Val274fs) rs1567268668
NM_002435.3(MPI):c.830_831del (p.Ala277fs)
NM_002435.3(MPI):c.841G>T (p.Gly281Ter)
NM_002435.3(MPI):c.84_88del (p.Arg29fs) rs753839890
NM_002435.3(MPI):c.880dup (p.Val294fs) rs1555479351
NM_002435.3(MPI):c.969_970del (p.Phe324fs)
NM_002435.3(MPI):c.989_1005dup (p.Ser336fs)
NM_002435.3(MPI):c.991del (p.Glu331fs) rs1555479423

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