ClinVar Miner

List of variants in gene PMS2 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 195
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HGVS dbSNP
NM_000535.7(PMS2):c.*14A>G rs1057520349
NM_000535.7(PMS2):c.-19C>T rs769408250
NM_000535.7(PMS2):c.-24C>G rs748909615
NM_000535.7(PMS2):c.-27C>A rs774137874
NM_000535.7(PMS2):c.-29G>A rs1057520893
NM_000535.7(PMS2):c.-30A>C rs761498916
NM_000535.7(PMS2):c.-4A>G rs544503598
NM_000535.7(PMS2):c.-7T>C rs199660792
NM_000535.7(PMS2):c.1005T>C (p.Asn335=) rs1057523266
NM_000535.7(PMS2):c.1008T>G (p.Val336=) rs1057521429
NM_000535.7(PMS2):c.1026A>G (p.Gln342=) rs561993366
NM_000535.7(PMS2):c.1041G>A (p.Glu347=) rs150515238
NM_000535.7(PMS2):c.1044A>G (p.Glu348=) rs1554298767
NM_000535.7(PMS2):c.1059A>G (p.Ala353=) rs876660930
NM_000535.7(PMS2):c.1092T>C (p.Asp364=) rs370066853
NM_000535.7(PMS2):c.1095T>C (p.Ser365=) rs763278132
NM_000535.7(PMS2):c.1104C>T (p.Asn368=) rs1554298686
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.1144+20C>T rs750883624
NM_000535.7(PMS2):c.1145-10G>A rs533551639
NM_000535.7(PMS2):c.1145-10G>T rs533551639
NM_000535.7(PMS2):c.1145-16G>A rs576825560
NM_000535.7(PMS2):c.1145-20C>T rs1057524098
NM_000535.7(PMS2):c.1145-8T>G rs1554298100
NM_000535.7(PMS2):c.114G>A (p.Ala38=) rs558032755
NM_000535.7(PMS2):c.1191A>G (p.Val397=) rs864622595
NM_000535.7(PMS2):c.1203T>C (p.Asp401=) rs1057522327
NM_000535.7(PMS2):c.1245G>A (p.Val415=) rs370701800
NM_000535.7(PMS2):c.1251T>C (p.Ile417=) rs1057521136
NM_000535.7(PMS2):c.1269C>A (p.Ala423=) rs921253631
NM_000535.7(PMS2):c.1280G>A (p.Arg427His) rs112902065
NM_000535.7(PMS2):c.1284C>T (p.His428=)
NM_000535.7(PMS2):c.1299G>A (p.Lys433=) rs760727820
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.1338T>C (p.Pro446=) rs786203033
NM_000535.7(PMS2):c.1344A>T (p.Gly448=) rs759192470
NM_000535.7(PMS2):c.1350A>G (p.Lys450=) rs1057521836
NM_000535.7(PMS2):c.1398C>T (p.Gly466=) rs752666485
NM_000535.7(PMS2):c.1401C>G (p.Val467=) rs1554297788
NM_000535.7(PMS2):c.1422A>C (p.Ala474=) rs1057522125
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly) rs144389038
NM_000535.7(PMS2):c.1437C>T (p.His479=) rs63750685
NM_000535.7(PMS2):c.1464G>A (p.Ala488=) rs754945468
NM_000535.7(PMS2):c.1482G>A (p.Ser494=) rs864622398
NM_000535.7(PMS2):c.1494C>T (p.Ser498=) rs770181766
NM_000535.7(PMS2):c.1500C>T (p.Ser500=) rs116094787
NM_000535.7(PMS2):c.1533G>T (p.Thr511=) rs542520309
NM_000535.7(PMS2):c.1536C>T (p.Gly512=) rs1057523150
NM_000535.7(PMS2):c.1539T>C (p.Ser513=) rs786202950
NM_000535.7(PMS2):c.1545C>T (p.Cys515=) rs1057520347
NM_000535.7(PMS2):c.1569C>T (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.1587G>A (p.Ser529=) rs786201709
NM_000535.7(PMS2):c.1617G>A (p.Ala539=) rs776931237
NM_000535.7(PMS2):c.164-11A>T
NM_000535.7(PMS2):c.164-15T>C rs1057522853
NM_000535.7(PMS2):c.164-16A>G rs887187101
NM_000535.7(PMS2):c.1653C>T (p.Cys551=)
NM_000535.7(PMS2):c.1656T>C (p.His552=) rs113726095
NM_000535.7(PMS2):c.1671T>C (p.Asp557=) rs1554297386
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.1731G>A (p.Lys577=) rs1057523469
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile) rs63750947
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585
NM_000535.7(PMS2):c.1812G>A (p.Gln604=) rs63750788
NM_000535.7(PMS2):c.1851C>T (p.Pro617=) rs1554297171
NM_000535.7(PMS2):c.1893G>A (p.Gln631=) rs1057524687
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.1936A>C (p.Arg646=) rs369582237
NM_000535.7(PMS2):c.1977A>G (p.Ala659=) rs1057522418
NM_000535.7(PMS2):c.2006+12A>C rs534044419
NM_000535.7(PMS2):c.2006+16T>C rs1554297038
NM_000535.7(PMS2):c.2007-14dup rs1554295996
NM_000535.7(PMS2):c.2007-19T>C rs1554295999
NM_000535.7(PMS2):c.2010A>G (p.Lys670=) rs745305784
NM_000535.7(PMS2):c.2025A>G (p.Glu675=) rs1057522947
NM_000535.7(PMS2):c.2076T>C (p.Asn692=) rs1554295887
NM_000535.7(PMS2):c.2100G>A (p.Gln700=) rs1554295833
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.2148C>T (p.Thr716=) rs748404138
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2175-13T>C rs748722013
NM_000535.7(PMS2):c.2175-9G>A rs1057522324
NM_000535.7(PMS2):c.2175A>T (p.Ala725=) rs769116749
NM_000535.7(PMS2):c.2190C>T (p.Asn730=)
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.2217G>A (p.Leu739=) rs752718686
NM_000535.7(PMS2):c.2217G>C (p.Leu739=) rs752718686
NM_000535.7(PMS2):c.2274T>C (p.Asn758=) rs1554294398
NM_000535.7(PMS2):c.2276-10A>G rs573900018
NM_000535.7(PMS2):c.2276-17A>G rs1057523755
NM_000535.7(PMS2):c.23+17G>A rs780132980
NM_000535.7(PMS2):c.23+19C>G rs756178012
NM_000535.7(PMS2):c.23+19C>T rs756178012
NM_000535.7(PMS2):c.23+6C>A rs779104357
NM_000535.7(PMS2):c.23+7G>A rs878854047
NM_000535.7(PMS2):c.23+7G>C rs878854047
NM_000535.7(PMS2):c.23+7G>T rs878854047
NM_000535.7(PMS2):c.2301G>A (p.Leu767=) rs1554293987
NM_000535.7(PMS2):c.2334C>T (p.Phe778=) rs768674294
NM_000535.7(PMS2):c.2346C>T (p.Asp782=) rs139031103
NM_000535.7(PMS2):c.2349C>T (p.Val783=) rs751036491
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522
NM_000535.7(PMS2):c.2373C>T (p.Ser791=) rs864622765
NM_000535.7(PMS2):c.2382T>C (p.Pro794=) rs1057521269
NM_000535.7(PMS2):c.24-11G>A rs1554306632
NM_000535.7(PMS2):c.24-18_24-16del rs1064795573
NM_000535.7(PMS2):c.24-3T>C rs749485884
NM_000535.7(PMS2):c.243A>G (p.Glu81=) rs1057521802
NM_000535.7(PMS2):c.2442G>A (p.Lys814=) rs1554293745
NM_000535.7(PMS2):c.2445+13A>T rs1057522244
NM_000535.7(PMS2):c.2445+14G>A rs913201632
NM_000535.7(PMS2):c.2445+14G>T rs913201632
NM_000535.7(PMS2):c.2445+8A>G rs1057522180
NM_000535.7(PMS2):c.2445+9del rs1064793472
NM_000535.7(PMS2):c.2446-18A>G rs1057522313
NM_000535.7(PMS2):c.2446-6A>G rs1554292905
NM_000535.7(PMS2):c.250+12T>C rs1057523757
NM_000535.7(PMS2):c.250+16C>G rs1554304924
NM_000535.7(PMS2):c.250+17T>G rs1057524040
NM_000535.7(PMS2):c.250+8G>A rs1057520511
NM_000535.7(PMS2):c.251-18C>T rs766811365
NM_000535.7(PMS2):c.251-20T>G rs149343081
NM_000535.7(PMS2):c.2565C>T (p.Asn855=) rs864622494
NM_000535.7(PMS2):c.258A>G (p.Lys86=) rs1057520475
NM_000535.7(PMS2):c.285T>C (p.Phe95=)
NM_000535.7(PMS2):c.321G>A (p.Arg107=) rs756420858
NM_000535.7(PMS2):c.321G>T (p.Arg107=) rs756420858
NM_000535.7(PMS2):c.324G>A (p.Gly108=) rs1057522330
NM_000535.7(PMS2):c.348A>C (p.Ala116=) rs763057312
NM_000535.7(PMS2):c.353+3G>A rs766373982
NM_000535.7(PMS2):c.353+7C>A rs1057520512
NM_000535.7(PMS2):c.354-19G>A rs888344650
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.383C>T (p.Ser128Leu) rs116373169
NM_000535.7(PMS2):c.456C>T (p.Pro152=) rs1057522031
NM_000535.7(PMS2):c.495A>G (p.Thr165=) rs1057520513
NM_000535.7(PMS2):c.496C>T (p.Leu166=) rs876659249
NM_000535.7(PMS2):c.525G>A (p.Arg175=) rs1554303870
NM_000535.7(PMS2):c.528T>C (p.Asn176=) rs1057523374
NM_000535.7(PMS2):c.537+16C>T rs1057521052
NM_000535.7(PMS2):c.537+17C>T rs548285941
NM_000535.7(PMS2):c.537+9A>G rs759013264
NM_000535.7(PMS2):c.538-15G>C rs1554302558
NM_000535.7(PMS2):c.538-19G>C rs1057521526
NM_000535.7(PMS2):c.555C>G (p.Val185=) rs759078497
NM_000535.7(PMS2):c.555C>T (p.Val185=) rs759078497
NM_000535.7(PMS2):c.672G>A (p.Lys224=) rs748141595
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.702G>A (p.Lys234=) rs876660388
NM_000535.7(PMS2):c.705+10G>A rs770203880
NM_000535.7(PMS2):c.705+13G>C rs776790763
NM_000535.7(PMS2):c.706-14T>A rs1057523232
NM_000535.7(PMS2):c.706-4T>C rs769605987
NM_000535.7(PMS2):c.706-7T>A rs1459714978
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.753G>A (p.Val251=) rs762836049
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.803+10dup rs1554301378
NM_000535.7(PMS2):c.803+11T>C rs767551713
NM_000535.7(PMS2):c.804-20A>T rs1057520346
NM_000535.7(PMS2):c.828C>T (p.Cys276=) rs757324104
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
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.903+11T>A rs766296823
NM_000535.7(PMS2):c.903+20G>C rs750189082
NM_000535.7(PMS2):c.903+4T>A rs753803330
NM_000535.7(PMS2):c.904-17_904-15del rs749482906
NM_000535.7(PMS2):c.904-19C>T rs1057522355
NM_000535.7(PMS2):c.904-20A>G rs375114786
NM_000535.7(PMS2):c.915C>T (p.Leu305=) rs767392742
NM_000535.7(PMS2):c.933C>T (p.His311=) rs1057521069
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000535.7(PMS2):c.96A>G (p.Val32=) rs746089731
NM_000535.7(PMS2):c.988+4A>G rs763959308
NM_000535.7(PMS2):c.989-14C>A rs1554298839
NM_000535.7(PMS2):c.993C>T (p.Cys331=) rs186577215
NM_001322007.1(PMS2):c.-248C>A rs562800874
NM_001322007.1(PMS2):c.-252C>T rs1027005255
NM_001322007.1(PMS2):c.-264C>T rs952806552
NM_001322007.1(PMS2):c.-265G>T rs557908122

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