ClinVar Miner

List of variants in gene PMM2 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP
NM_000303.2(PMM2):c.-70G>A rs563744399
NM_000303.3(PMM2):c.*1032C>G rs79686490
NM_000303.3(PMM2):c.*1063C>T rs539046271
NM_000303.3(PMM2):c.*1074T>C rs147284732
NM_000303.3(PMM2):c.*1086G>A rs567957339
NM_000303.3(PMM2):c.*10G>A rs200930493
NM_000303.3(PMM2):c.*1103C>T rs886052470
NM_000303.3(PMM2):c.*1136T>C rs574947575
NM_000303.3(PMM2):c.*1195G>T rs186712555
NM_000303.3(PMM2):c.*1219C>T rs546209036
NM_000303.3(PMM2):c.*1224C>A rs74008087
NM_000303.3(PMM2):c.*1260C>T rs886052471
NM_000303.3(PMM2):c.*1297C>A rs183853029
NM_000303.3(PMM2):c.*1297C>T rs183853029
NM_000303.3(PMM2):c.*1301del rs142140685
NM_000303.3(PMM2):c.*1348A>G rs188346349
NM_000303.3(PMM2):c.*1360C>T rs72766381
NM_000303.3(PMM2):c.*1375G>T rs886052472
NM_000303.3(PMM2):c.*137G>A rs886052459
NM_000303.3(PMM2):c.*1434C>A rs546341789
NM_000303.3(PMM2):c.*17G>A rs9936097
NM_000303.3(PMM2):c.*26C>T rs138528126
NM_000303.3(PMM2):c.*275A>T rs553522916
NM_000303.3(PMM2):c.*276C>G rs573179742
NM_000303.3(PMM2):c.*365G>T rs886052460
NM_000303.3(PMM2):c.*368C>G rs72766379
NM_000303.3(PMM2):c.*383C>T rs886052461
NM_000303.3(PMM2):c.*410A>G rs77027373
NM_000303.3(PMM2):c.*423G>C rs886052462
NM_000303.3(PMM2):c.*476C>T rs886052463
NM_000303.3(PMM2):c.*492C>G rs548732618
NM_000303.3(PMM2):c.*52C>T rs565165106
NM_000303.3(PMM2):c.*53G>C rs762640350
NM_000303.3(PMM2):c.*588G>A rs886052464
NM_000303.3(PMM2):c.*658C>T rs549756162
NM_000303.3(PMM2):c.*674G>A rs886052465
NM_000303.3(PMM2):c.*733C>T rs886052466
NM_000303.3(PMM2):c.*81C>T rs886052458
NM_000303.3(PMM2):c.*833G>A rs144056509
NM_000303.3(PMM2):c.*888A>G rs886052467
NM_000303.3(PMM2):c.*891C>T rs886052468
NM_000303.3(PMM2):c.*959C>G rs886052469
NM_000303.3(PMM2):c.*972C>T rs746081212
NM_000303.3(PMM2):c.*994A>T rs113234190
NM_000303.3(PMM2):c.-34C>T rs751782324
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu) rs2304472
NM_000303.3(PMM2):c.284del (p.Leu95fs) rs757865122
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146
NM_000303.3(PMM2):c.447+4C>T rs537238935
NM_000303.3(PMM2):c.552T>C (p.Pro184=) rs560182098
NM_000303.3(PMM2):c.593A>C (p.Asn198Thr) rs773420873
NM_000303.3(PMM2):c.597C>T (p.Asp199=) rs376412367
NM_000303.3(PMM2):c.640-12G>A rs375325546
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) rs201556985
NM_000303.3(PMM2):c.93C>T (p.Phe31=) rs61730638

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