ClinVar Miner

List of variants in gene PMM2 reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 106
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.*252C>A rs2075828 0.41543
NM_000303.3(PMM2):c.*997A>G rs1056898 0.28325
NM_000303.3(PMM2):c.*175G>A rs2072688 0.26303
NM_000303.3(PMM2):c.*136A>C rs2075827 0.24978
NM_000303.3(PMM2):c.*96G>C rs11554040 0.14272
NM_000303.3(PMM2):c.*1259C>G rs78698557 0.04619
NM_000303.3(PMM2):c.*560A>G rs2447928 0.04419
NM_000303.2(PMM2):c.*1516C>G rs74008088 0.03504
NM_000303.3(PMM2):c.*1360C>T rs72766381 0.03294
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_000303.3(PMM2):c.*534G>A rs2447929 0.01770
NM_000303.3(PMM2):c.*994A>T rs113234190 0.01373
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146 0.01239
NM_000303.3(PMM2):c.*166C>G rs115474235 0.00982
NM_000303.3(PMM2):c.*17G>A rs9936097 0.00905
NM_000303.3(PMM2):c.*1301del rs142140685 0.00737
NM_000303.3(PMM2):c.*368C>G rs72766379 0.00580
NM_000303.3(PMM2):c.*915T>A rs114954775 0.00441
NM_000303.3(PMM2):c.*492C>G rs548732618 0.00352
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_000303.3(PMM2):c.*1074T>C rs147284732 0.00129
NM_000303.3(PMM2):c.*410A>G rs77027373 0.00102
NM_000303.3(PMM2):c.*833G>A rs144056509 0.00086
NM_000303.3(PMM2):c.*896G>A rs78930414 0.00051
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_000303.3(PMM2):c.657G>C (p.Glu219Asp) rs144040842 0.00039
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu) rs2304472 0.00035
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324 0.00035
NM_000303.3(PMM2):c.*1434C>A rs546341789 0.00029
NM_000303.3(PMM2):c.*477G>A rs529074146 0.00029
NM_000303.3(PMM2):c.366C>T (p.Phe122=) rs145714866 0.00027
NM_000303.3(PMM2):c.*242C>T rs866278750 0.00020
NM_000303.3(PMM2):c.*52C>T rs565165106 0.00019
NM_000303.3(PMM2):c.*733C>T rs886052466 0.00019
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) rs201556985 0.00019
NM_000303.3(PMM2):c.*1195G>T rs186712555 0.00017
NM_000303.3(PMM2):c.*10G>A rs200930493 0.00015
NM_000303.3(PMM2):c.634A>G (p.Met212Val) rs3743808 0.00014
NM_000303.3(PMM2):c.*1136T>C rs574947575 0.00010
NM_000303.3(PMM2):c.*1348A>G rs188346349 0.00010
NM_000303.3(PMM2):c.441C>T (p.Leu147=) rs146990448 0.00010
NM_000303.3(PMM2):c.255+2T>C rs139716296 0.00007
NM_000303.3(PMM2):c.*1063C>T rs539046271 0.00006
NM_000303.3(PMM2):c.*1086G>A rs567957339 0.00006
NM_000303.3(PMM2):c.*246C>T rs756637944 0.00006
NM_000303.3(PMM2):c.*476C>T rs886052463 0.00006
NM_000303.3(PMM2):c.256-13T>G rs62031145 0.00006
NM_000303.3(PMM2):c.640-12G>A rs375325546 0.00006
NM_000303.3(PMM2):c.*205C>T rs556232441 0.00005
NM_000303.3(PMM2):c.*26C>T rs138528126 0.00005
NM_000303.3(PMM2):c.*365G>T rs886052460 0.00004
NM_000303.3(PMM2):c.*588G>A rs886052464 0.00004
NM_000303.3(PMM2):c.-34C>T rs751782324 0.00004
NM_000303.3(PMM2):c.447+4C>T rs537238935 0.00004
NM_000303.3(PMM2):c.639+10G>A rs200593954 0.00004
NM_000303.3(PMM2):c.*1297C>T rs183853029 0.00003
NM_000303.3(PMM2):c.*383C>T rs886052461 0.00003
NM_000303.3(PMM2):c.*674G>A rs886052465 0.00003
NM_000303.3(PMM2):c.*695C>T rs767981809 0.00003
NM_000303.3(PMM2):c.*81C>T rs886052458 0.00003
NM_000303.3(PMM2):c.*888A>G rs886052467 0.00003
NM_000303.3(PMM2):c.*959C>G rs886052469 0.00003
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701 0.00003
NM_000303.3(PMM2):c.597C>T (p.Asp199=) rs376412367 0.00003
NM_000303.3(PMM2):c.*1103C>T rs886052470 0.00002
NM_000303.3(PMM2):c.*1138T>G rs999681403 0.00002
NM_000303.3(PMM2):c.*972C>T rs746081212 0.00002
NM_000303.3(PMM2):c.154G>C (p.Val52Leu) rs148608841 0.00002
NM_000303.3(PMM2):c.*1219C>T rs546209036 0.00001
NM_000303.3(PMM2):c.*1260C>T rs886052471 0.00001
NM_000303.3(PMM2):c.*1345T>C rs144652247 0.00001
NM_000303.3(PMM2):c.*658C>T rs549756162 0.00001
NM_000303.3(PMM2):c.*891C>T rs886052468 0.00001
NM_000303.3(PMM2):c.126A>G (p.Gly42=) rs766984518 0.00001
NM_000303.3(PMM2):c.178+12G>A rs2060618999 0.00001
NM_000303.3(PMM2):c.284del (p.Leu95fs) rs757865122 0.00001
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) rs80338700 0.00001
NM_000303.3(PMM2):c.593A>C (p.Asn198Thr) rs773420873 0.00001
NM_000303.2(PMM2):c.-70G>A rs563744399
NM_000303.3(PMM2):c.*1032C>A rs79686490
NM_000303.3(PMM2):c.*1032C>G rs79686490
NM_000303.3(PMM2):c.*1072A>G rs2060947173
NM_000303.3(PMM2):c.*1142A>T rs760967158
NM_000303.3(PMM2):c.*1218A>G rs557668852
NM_000303.3(PMM2):c.*1224C>A rs74008087
NM_000303.3(PMM2):c.*1297C>A rs183853029
NM_000303.3(PMM2):c.*1312T>C rs905795044
NM_000303.3(PMM2):c.*1352G>C rs750545597
NM_000303.3(PMM2):c.*1375G>T rs886052472
NM_000303.3(PMM2):c.*137G>A rs886052459
NM_000303.3(PMM2):c.*1380A>G rs2060949906
NM_000303.3(PMM2):c.*1424C>T rs552732593
NM_000303.3(PMM2):c.*1440C>G rs147950728
NM_000303.3(PMM2):c.*255A>G rs2060940260
NM_000303.3(PMM2):c.*275A>T rs553522916
NM_000303.3(PMM2):c.*276C>G rs573179742
NM_000303.3(PMM2):c.*421G>T rs1178910267
NM_000303.3(PMM2):c.*423G>C rs886052462
NM_000303.3(PMM2):c.*458C>T rs1380890616
NM_000303.3(PMM2):c.*53G>C rs762640350
NM_000303.3(PMM2):c.*791G>C rs2437722
NM_000303.3(PMM2):c.347+15A>C rs751222355
NM_000303.3(PMM2):c.490G>C (p.Glu164Gln) rs2060678778
NM_000303.3(PMM2):c.552T>C (p.Pro184=) rs560182098
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.3(PMM2):c.93C>T (p.Phe31=) rs61730638

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.