ClinVar Miner

List of variants in gene PMS2 reported as likely benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 251
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HGVS dbSNP
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.7(PMS2):c.1008T>G (p.Val336=) rs1057521429
NM_000535.7(PMS2):c.1023G>A (p.Arg341=) rs746961377
NM_000535.7(PMS2):c.1032G>A (p.Leu344=) rs1554298791
NM_000535.7(PMS2):c.1041G>A (p.Glu347=) rs150515238
NM_000535.7(PMS2):c.1054T>C (p.Leu352=) rs1554298752
NM_000535.7(PMS2):c.1059A>G (p.Ala353=) rs876660930
NM_000535.7(PMS2):c.1107G>A (p.Lys369=) rs1554298683
NM_000535.7(PMS2):c.1110A>G (p.Leu370=) rs1554298681
NM_000535.7(PMS2):c.1113T>C (p.Asn371=) rs989130272
NM_000535.7(PMS2):c.1116C>T (p.Val372=) rs876659729
NM_000535.7(PMS2):c.1128A>C (p.Pro376=) rs367774545
NM_000535.7(PMS2):c.1134G>T (p.Leu378=) rs754576828
NM_000535.7(PMS2):c.114G>A (p.Ala38=) rs558032755
NM_000535.7(PMS2):c.1167A>G (p.Ala389=) rs748920792
NM_000535.7(PMS2):c.1169C>T (p.Ala390Val) rs587780039
NM_000535.7(PMS2):c.1170G>A (p.Ala390=) rs755578413
NM_000535.7(PMS2):c.1191A>G (p.Val397=) rs864622595
NM_000535.7(PMS2):c.1197G>A (p.Lys399=) rs757730609
NM_000535.7(PMS2):c.1203T>C (p.Asp401=) rs1057522327
NM_000535.7(PMS2):c.1209C>G (p.Ser403=) rs147399413
NM_000535.7(PMS2):c.1209C>T (p.Ser403=) rs147399413
NM_000535.7(PMS2):c.1224T>C (p.Thr408=) rs1554298007
NM_000535.7(PMS2):c.1225G>C (p.Gly409Arg) rs864622553
NM_000535.7(PMS2):c.1233A>G (p.Glu411=) rs587780040
NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg) rs587780041
NM_000535.7(PMS2):c.1242C>T (p.Asp414=) rs142839559
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) rs138387687
NM_000535.7(PMS2):c.1245G>C (p.Val415=) rs370701800
NM_000535.7(PMS2):c.1248C>A (p.Ser416=) rs780709321
NM_000535.7(PMS2):c.1288A>G (p.Thr430Ala) rs587781382
NM_000535.7(PMS2):c.12T>G (p.Ala4=) rs776136427
NM_000535.7(PMS2):c.1305C>T (p.His435=) rs763954903
NM_000535.7(PMS2):c.1309C>T (p.Pro437Ser) rs200726484
NM_000535.7(PMS2):c.1311A>G (p.Pro437=) rs1554297898
NM_000535.7(PMS2):c.1320A>G (p.Pro440=) rs138697590
NM_000535.7(PMS2):c.1338T>C (p.Pro446=) rs786203033
NM_000535.7(PMS2):c.1344A>G (p.Gly448=) rs759192470
NM_000535.7(PMS2):c.1344A>T (p.Gly448=) rs759192470
NM_000535.7(PMS2):c.1354G>A (p.Gly452Ser) rs569947936
NM_000535.7(PMS2):c.1356T>C (p.Gly452=) rs786202946
NM_000535.7(PMS2):c.1357A>G (p.Met453Val) rs587780722
NM_000535.7(PMS2):c.1361T>C (p.Leu454Pro) rs772659239
NM_000535.7(PMS2):c.1364C>T (p.Ser455Phe) rs748698776
NM_000535.7(PMS2):c.1368T>C (p.Ser456=) rs587780723
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462
NM_000535.7(PMS2):c.1383C>T (p.Ala461=) rs756335943
NM_000535.7(PMS2):c.1386C>T (p.Ile462=) rs750448069
NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg) rs141084758
NM_000535.7(PMS2):c.1398C>G (p.Gly466=) rs752666485
NM_000535.7(PMS2):c.1398C>T (p.Gly466=) rs752666485
NM_000535.7(PMS2):c.139C>G (p.Leu47Val) rs766203500
NM_000535.7(PMS2):c.1402C>T (p.Leu468=) rs759306219
NM_000535.7(PMS2):c.1420G>T (p.Ala474Ser) rs373114291
NM_000535.7(PMS2):c.1437C>T (p.His479=) rs63750685
NM_000535.7(PMS2):c.1444A>G (p.Ser482Gly) rs786203510
NM_000535.7(PMS2):c.1454C>T (p.Thr485Met) rs1805323
NM_000535.7(PMS2):c.1455G>A (p.Thr485=) rs752665758
NM_000535.7(PMS2):c.1464G>A (p.Ala488=) rs754945468
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853
NM_000535.7(PMS2):c.1470G>A (p.Val490=) rs786203076
NM_000535.7(PMS2):c.1476G>A (p.Lys492=) rs766309532
NM_000535.7(PMS2):c.1482G>A (p.Ser494=) rs864622398
NM_000535.7(PMS2):c.1485G>A (p.Gly495=) rs143865305
NM_000535.7(PMS2):c.1489G>A (p.Gly497Ser) rs749826312
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859
NM_000535.7(PMS2):c.1494C>T (p.Ser498=) rs770181766
NM_000535.7(PMS2):c.1500C>G (p.Ser500=) rs116094787
NM_000535.7(PMS2):c.1500C>T (p.Ser500=) rs116094787
NM_000535.7(PMS2):c.1506T>C (p.Asp502=) rs63750354
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln) rs368516768
NM_000535.7(PMS2):c.1518C>T (p.Phe506=) rs1554297654
NM_000535.7(PMS2):c.1533G>A (p.Thr511=) rs542520309
NM_000535.7(PMS2):c.1533G>T (p.Thr511=) rs542520309
NM_000535.7(PMS2):c.1539T>C (p.Ser513=) rs786202950
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300
NM_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814
NM_000535.7(PMS2):c.1560G>C (p.Ala520=) rs201167814
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.1587G>A (p.Ser529=) rs786201709
NM_000535.7(PMS2):c.1602C>G (p.Asp534Glu) rs1554297497
NM_000535.7(PMS2):c.1616C>T (p.Ala539Val) rs138222146
NM_000535.7(PMS2):c.1617G>A (p.Ala539=) rs776931237
NM_000535.7(PMS2):c.1617G>T (p.Ala539=) rs776931237
NM_000535.7(PMS2):c.1626T>C (p.Thr542=) rs1554297442
NM_000535.7(PMS2):c.1629C>T (p.Asp543=) rs111673299
NM_000535.7(PMS2):c.164-4C>A rs876658444
NM_000535.7(PMS2):c.1644T>C (p.Asp548=) rs786201630
NM_000535.7(PMS2):c.1656T>C (p.His552=) rs113726095
NM_000535.7(PMS2):c.1665G>A (p.Gln555=) rs876659285
NM_000535.7(PMS2):c.1668A>G (p.Glu556=) rs876659780
NM_000535.7(PMS2):c.1674C>T (p.Thr558=) rs876658134
NM_000535.7(PMS2):c.1679G>A (p.Cys560Tyr) rs757989905
NM_000535.7(PMS2):c.1687C>A (p.Arg563=) rs587778618
NM_000535.7(PMS2):c.1689A>G (p.Arg563=) rs551226281
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp) rs115670442
NM_000535.7(PMS2):c.1713C>T (p.Leu571=) rs745774944
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser) rs63751211
NM_000535.7(PMS2):c.1720C>T (p.Pro574Ser) rs758018736
NM_000535.7(PMS2):c.1728A>G (p.Thr576=) rs754542046
NM_000535.7(PMS2):c.1731G>A (p.Lys577=) rs1057523469
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn) rs762100304
NM_000535.7(PMS2):c.1768A>G (p.Ile590Val) rs63750476
NM_000535.7(PMS2):c.1806C>G (p.Ala602=) rs376046767
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585
NM_000535.7(PMS2):c.1819G>A (p.Val607Ile) rs786204109
NM_000535.7(PMS2):c.1854G>A (p.Leu618=) rs876660784
NM_000535.7(PMS2):c.1863T>C (p.Ser621=) rs786203962
NM_000535.7(PMS2):c.1864A>G (p.Met622Val) rs370853512
NM_000535.7(PMS2):c.1883G>A (p.Arg628Gln) rs587780044
NM_000535.7(PMS2):c.1884A>G (p.Arg628=) rs876659286
NM_000535.7(PMS2):c.189G>A (p.Val63=) rs786203074
NM_000535.7(PMS2):c.1902T>C (p.His634=) rs376335675
NM_000535.7(PMS2):c.1906G>A (p.Ala636Thr) rs876658863
NM_000535.7(PMS2):c.1926A>G (p.Glu642=) rs765262682
NM_000535.7(PMS2):c.1935C>T (p.Tyr645=) rs786201737
NM_000535.7(PMS2):c.1936A>C (p.Arg646=) rs369582237
NM_000535.7(PMS2):c.1944T>C (p.Phe648=) rs144011908
NM_000535.7(PMS2):c.1956T>A (p.Ile652=) rs267608168
NM_000535.7(PMS2):c.1980C>T (p.Ala660=) rs368928783
NM_000535.7(PMS2):c.1995A>G (p.Arg665=) rs781780543
NM_000535.7(PMS2):c.2010A>G (p.Lys670=) rs745305784
NM_000535.7(PMS2):c.2043G>A (p.Gln681=) rs876658953
NM_000535.7(PMS2):c.2049C>T (p.Asn683=) rs752950007
NM_000535.7(PMS2):c.2055A>G (p.Gly685=) rs786202005
NM_000535.7(PMS2):c.2076T>C (p.Asn692=) rs1554295887
NM_000535.7(PMS2):c.2085C>T (p.Ile695=) rs757157176
NM_000535.7(PMS2):c.2106C>T (p.Ala702=) rs786202273
NM_000535.7(PMS2):c.2109G>A (p.Thr703=) rs775355718
NM_000535.7(PMS2):c.2112C>T (p.Asp704=) rs764735061
NM_000535.7(PMS2):c.2127C>T (p.Phe709=) rs199943748
NM_000535.7(PMS2):c.2136G>C (p.Leu712=) rs1554295780
NM_000535.7(PMS2):c.213T>C (p.Asn71=) rs1554304994
NM_000535.7(PMS2):c.2148C>T (p.Thr716=) rs748404138
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2157G>A (p.Gln719=) rs1554295735
NM_000535.7(PMS2):c.2160G>A (p.Gly720=) rs546441038
NM_000535.7(PMS2):c.2166G>A (p.Arg722=) rs863224367
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535
NM_000535.7(PMS2):c.2199T>C (p.Ala733=) rs876658952
NM_000535.7(PMS2):c.21G>A (p.Ser7=) rs587780726
NM_000535.7(PMS2):c.21G>C (p.Ser7=) rs587780726
NM_000535.7(PMS2):c.2226T>C (p.Asn742=) rs786202755
NM_000535.7(PMS2):c.2265C>T (p.Ile755=) rs145646046
NM_000535.7(PMS2):c.2271A>G (p.Glu757=) rs1476682377
NM_000535.7(PMS2):c.2276-10A>G rs573900018
NM_000535.7(PMS2):c.2283C>T (p.Val761=) rs1554294008
NM_000535.7(PMS2):c.2289A>G (p.Glu763=) rs786201442
NM_000535.7(PMS2):c.2334C>T (p.Phe778=) rs768674294
NM_000535.7(PMS2):c.2343G>A (p.Gln781=) rs786202531
NM_000535.7(PMS2):c.2346C>T (p.Asp782=) rs139031103
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile) rs553286217
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272
NM_000535.7(PMS2):c.2358G>C (p.Leu786=) rs535056715
NM_000535.7(PMS2):c.2373C>T (p.Ser791=) rs864622765
NM_000535.7(PMS2):c.2379C>T (p.Ser793=) rs1554293887
NM_000535.7(PMS2):c.2385G>T (p.Gly795=) rs372868520
NM_000535.7(PMS2):c.2388C>A (p.Val796=) rs876660875
NM_000535.7(PMS2):c.2397G>A (p.Arg799=) rs1554293832
NM_000535.7(PMS2):c.2403C>T (p.Ser801=) rs1554293820
NM_000535.7(PMS2):c.2404C>A (p.Arg802=) rs63751466
NM_000535.7(PMS2):c.240C>T (p.Phe80=) rs143162541
NM_000535.7(PMS2):c.243A>G (p.Glu81=) rs1057521802
NM_000535.7(PMS2):c.2457G>T (p.Gly819=) rs786203315
NM_000535.7(PMS2):c.2475C>T (p.Ser825=) rs776460258
NM_000535.7(PMS2):c.2499C>T (p.His833=) rs876659564
NM_000535.7(PMS2):c.24T>C (p.Ser8=) rs1554306620
NM_000535.7(PMS2):c.2517C>T (p.His839=) rs747600189
NM_000535.7(PMS2):c.2532C>T (p.Pro844=) rs1554292744
NM_000535.7(PMS2):c.2535T>C (p.His845=) rs876660464
NM_000535.7(PMS2):c.2538A>G (p.Gly846=) rs863224368
NM_000535.7(PMS2):c.2547C>G (p.Thr849=) rs876660072
NM_000535.7(PMS2):c.2559C>T (p.Ile853=) rs371673459
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279
NM_000535.7(PMS2):c.2562C>T (p.Ala854=) rs1060504841
NM_000535.7(PMS2):c.267A>G (p.Thr89=) rs876659181
NM_000535.7(PMS2):c.270T>G (p.Ser90=) rs876660414
NM_000535.7(PMS2):c.279A>G (p.Gln93=) rs1554304728
NM_000535.7(PMS2):c.27A>C (p.Thr9=) rs1060504842
NM_000535.7(PMS2):c.282G>A (p.Glu94=) rs576942328
NM_000535.7(PMS2):c.309T>G (p.Thr103=) rs786202834
NM_000535.7(PMS2):c.30A>G (p.Glu10=) rs876660608
NM_000535.7(PMS2):c.312T>C (p.Phe104=) rs778519215
NM_000535.7(PMS2):c.321G>A (p.Arg107=) rs756420858
NM_000535.7(PMS2):c.339A>T (p.Ser113=) rs951573893
NM_000535.7(PMS2):c.342T>C (p.Leu114=) rs1205203356
NM_000535.7(PMS2):c.348A>C (p.Ala116=) rs763057312
NM_000535.7(PMS2):c.354C>T (p.Ser118=) rs760615315
NM_000535.7(PMS2):c.360C>T (p.Val120=) rs767313783
NM_000535.7(PMS2):c.378C>T (p.His126=) rs768488890
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343
NM_000535.7(PMS2):c.381A>C (p.Ala127=) rs1060504835
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884
NM_000535.7(PMS2):c.387G>A (p.Ala129=) rs876658275
NM_000535.7(PMS2):c.396A>C (p.Gly132=) rs786201073
NM_000535.7(PMS2):c.396A>G (p.Gly132=) rs786201073
NM_000535.7(PMS2):c.417C>T (p.His139=) rs876659919
NM_000535.7(PMS2):c.450C>T (p.Pro150=) rs1554303987
NM_000535.7(PMS2):c.474C>T (p.Ser158=) rs767414243
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251
NM_000535.7(PMS2):c.480G>A (p.Gln160=) rs1426242773
NM_000535.7(PMS2):c.496C>T (p.Leu166=) rs876659249
NM_000535.7(PMS2):c.51T>C (p.Pro17=) rs786201072
NM_000535.7(PMS2):c.525G>A (p.Arg175=) rs1554303870
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.7(PMS2):c.546C>T (p.Ala182=) rs1554302537
NM_000535.7(PMS2):c.555C>T (p.Val185=) rs759078497
NM_000535.7(PMS2):c.567T>C (p.His189=) rs876660433
NM_000535.7(PMS2):c.573C>T (p.Tyr191=) rs761134229
NM_000535.7(PMS2):c.591C>T (p.Gly197=) rs748518694
NM_000535.7(PMS2):c.60G>C (p.Arg20=) rs1554306548
NM_000535.7(PMS2):c.630A>G (p.Lys210=) rs765847615
NM_000535.7(PMS2):c.645A>G (p.Val215=) rs1221117740
NM_000535.7(PMS2):c.648C>T (p.Cys216=) rs762387250
NM_000535.7(PMS2):c.681C>A (p.Ile227=) rs188813057
NM_000535.7(PMS2):c.681C>T (p.Ile227=) rs188813057
NM_000535.7(PMS2):c.684C>T (p.Gly228=) rs371876208
NM_000535.7(PMS2):c.687T>C (p.Ser229=) rs786201508
NM_000535.7(PMS2):c.690G>A (p.Val230=) rs749871098
NM_000535.7(PMS2):c.690G>T (p.Val230=) rs749871098
NM_000535.7(PMS2):c.696G>T (p.Gly232=) rs1358310474
NM_000535.7(PMS2):c.6G>A (p.Glu2=) rs774177383
NM_000535.7(PMS2):c.702G>A (p.Lys234=) rs876660388
NM_000535.7(PMS2):c.711A>G (p.Gln237=) rs368608818
NM_000535.7(PMS2):c.720T>A (p.Ile240=) rs777148436
NM_000535.7(PMS2):c.735G>T (p.Leu245=) rs373366661
NM_000535.7(PMS2):c.738C>G (p.Pro246=) rs202094399
NM_000535.7(PMS2):c.750C>T (p.Ser250=) rs200439295
NM_000535.7(PMS2):c.759A>G (p.Glu253=) rs745720298
NM_000535.7(PMS2):c.765C>T (p.Tyr255=) rs573125799
NM_000535.7(PMS2):c.768T>C (p.Gly256=) rs876660396
NM_000535.7(PMS2):c.771G>A (p.Leu257=) rs746652254
NM_000535.7(PMS2):c.780C>A (p.Ser260=) rs1805319
NM_000535.7(PMS2):c.789G>A (p.Leu263=) rs755394319
NM_000535.7(PMS2):c.795T>C (p.Asn265=) rs766667186
NM_000535.7(PMS2):c.828C>T (p.Cys276=) rs757324104
NM_000535.7(PMS2):c.831G>A (p.Thr277=) rs116481522
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004
NM_000535.7(PMS2):c.87G>A (p.Gly29=) rs876659642
NM_000535.7(PMS2):c.885G>A (p.Arg295=) rs786201615
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg) rs56203955
NM_000535.7(PMS2):c.915C>G (p.Leu305=) rs767392742
NM_000535.7(PMS2):c.915C>T (p.Leu305=) rs767392742
NM_000535.7(PMS2):c.936G>A (p.Met312Ile) rs139194813
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000535.7(PMS2):c.97C>T (p.Leu33=) rs878854061
NM_000535.7(PMS2):c.993C>T (p.Cys331=) rs186577215
NM_000535.7(PMS2):c.9A>G (p.Arg3=) rs1554309048

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