ClinVar Miner

List of variants in gene PMS2 reported as pathogenic by Color Diagnostics, LLC DBA Color Health

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 98
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter) rs63750451 0.00002
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338 0.00002
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617 0.00001
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter) rs63751422 0.00001
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter) rs1064794083 0.00001
NM_000535.7(PMS2):c.251-2A>T rs587779340 0.00001
NM_000535.7(PMS2):c.2T>C (p.Met1Thr) rs587780059 0.00001
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871 0.00001
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter) rs786201047 0.00001
NM_000535.7(PMS2):c.825A>G (p.Gln275=) rs876659736 0.00001
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585 0.00001
NM_000535.7(PMS2):c.1021del (p.Arg341fs) rs63750049
NM_000535.7(PMS2):c.1036C>T (p.Gln346Ter) rs1554298786
NM_000535.7(PMS2):c.1076dup (p.Leu359fs) rs267608156
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs) rs587779326
NM_000535.7(PMS2):c.1120C>T (p.Gln374Ter) rs1437858319
NM_000535.7(PMS2):c.1150_1151del (p.Leu384fs) rs2128737358
NM_000535.7(PMS2):c.1164del (p.His388fs) rs1554298082
NM_000535.7(PMS2):c.1181del (p.Lys394fs) rs1554298067
NM_000535.7(PMS2):c.1196dup (p.Gln400fs) rs1554298056
NM_000535.7(PMS2):c.1206del (p.Gln402fs) rs1562636427
NM_000535.7(PMS2):c.1217T>G (p.Leu406Ter)
NM_000535.7(PMS2):c.1239del (p.Asp414fs) rs267608159
NM_000535.7(PMS2):c.1239dup (p.Asp414fs) rs267608159
NM_000535.7(PMS2):c.1281del (p.His428fs) rs1783147885
NM_000535.7(PMS2):c.1332del (p.Ser445fs) rs1554297877
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter) rs587780724
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.1418_1419del (p.Glu473fs) rs1783098862
NM_000535.7(PMS2):c.1472_1485del (p.Glu491fs) rs1562632035
NM_000535.7(PMS2):c.1488_1489insTGCC (p.Gly497fs)
NM_000535.7(PMS2):c.1576del (p.Asp526fs) rs863224497
NM_000535.7(PMS2):c.1579_1580del (p.Arg527fs) rs1064793234
NM_000535.7(PMS2):c.1606C>T (p.Gln536Ter) rs1554297488
NM_000535.7(PMS2):c.1639dup (p.Ser547fs) rs863224498
NM_000535.7(PMS2):c.164-1G>C rs763308607
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter) rs587778618
NM_000535.7(PMS2):c.172_173del (p.Lys57_Leu58insTer) rs1785429855
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs) rs1057515572
NM_000535.7(PMS2):c.1737del (p.Phe579fs) rs1782994894
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter) rs267608169
NM_000535.7(PMS2):c.1743del (p.Glu582fs) rs1057517801
NM_000535.7(PMS2):c.176del (p.Lys59fs) rs1785429311
NM_000535.7(PMS2):c.1778del (p.Lys593fs) rs766389591
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter) rs63750490
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer) rs786203073
NM_000535.7(PMS2):c.1908del (p.Gln637fs) rs1562626121
NM_000535.7(PMS2):c.1909_1913del (p.Gln637fs) rs1562626011
NM_000535.7(PMS2):c.1929_1930del (p.Asn644fs) rs1782935566
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.1A>T (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.206C>A (p.Ser69Ter) rs730881914
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.223del (p.Gly74_Val75insTer) rs1554304974
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter) rs730881919
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs) rs587781626
NM_000535.7(PMS2):c.251-2A>C rs587779340
NM_000535.7(PMS2):c.261_265del (p.His88fs)
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs) rs1554304745
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.325del (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.325dup (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.33del (p.Ala12fs) rs1554306605
NM_000535.7(PMS2):c.343del (p.Cys115fs)
NM_000535.7(PMS2):c.3G>A (p.Met1Ile) rs1554309086
NM_000535.7(PMS2):c.445del (p.Tyr149fs) rs769742496
NM_000535.7(PMS2):c.451del (p.Arg151fs) rs1562689635
NM_000535.7(PMS2):c.51del (p.Ile18fs) rs1785715961
NM_000535.7(PMS2):c.525_534del (p.Asn176fs) rs1785187053
NM_000535.7(PMS2):c.613C>T (p.Gln205Ter) rs758250810
NM_000535.7(PMS2):c.631C>T (p.Arg211Ter) rs760228510
NM_000535.7(PMS2):c.634C>T (p.Gln212Ter) rs1562678257
NM_000535.7(PMS2):c.690_691del (p.Phe231fs) rs1064795447
NM_000535.7(PMS2):c.697C>T (p.Gln233Ter) rs587779343
NM_000535.7(PMS2):c.712del (p.Ser238fs) rs1554301561
NM_000535.7(PMS2):c.730C>T (p.Gln244Ter) rs1562671039
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.73C>T (p.Gln25Ter) rs1554306528
NM_000535.7(PMS2):c.746_753del (p.Asp249fs) rs587782710
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer) rs1064794905
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter) rs573125799
NM_000535.7(PMS2):c.802del (p.Tyr268fs) rs267608149
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter) rs587780062
NM_000535.7(PMS2):c.829dup (p.Thr277fs)
NM_000535.7(PMS2):c.861_864del (p.Arg287fs) rs267608154
NM_000535.7(PMS2):c.862C>T (p.Gln288Ter) rs1583363851
NM_000535.7(PMS2):c.862_863del (p.Gln288fs) rs63750246
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter) rs141577476
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000535.7(PMS2):c.939T>A (p.Tyr313Ter) rs1562651617
NM_000535.7(PMS2):c.989-1G>T rs587780064
NM_000535.7(PMS2):c.989-2A>G rs587779347
NM_000535.7(PMS2):c.993C>A (p.Cys331Ter)

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.