ClinVar Miner

List of variants in gene PMS2 reported by Counsyl

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Gene type:
ClinVar version:
Total variants: 137
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HGVS dbSNP
NM_000535.5(PMS2):c.1041G>C (p.Glu347Asp) rs150515238
NM_000535.5(PMS2):c.1080A>G (p.Ile360Met) rs567102013
NM_000535.5(PMS2):c.11C>G (p.Ala4Gly) rs745361721
NM_000535.5(PMS2):c.164-1G>C rs763308607
NM_000535.5(PMS2):c.2007-6C>G rs376018314
NM_000535.5(PMS2):c.2036T>C (p.Ile679Thr) rs778251286
NM_000535.5(PMS2):c.2174+1G>A rs267608172
NM_000535.5(PMS2):c.2174C>T (p.Ala725Val) rs150630090
NM_000535.5(PMS2):c.2192_2196delTAACT (p.Leu731Cysfs) rs63750695
NM_000535.5(PMS2):c.2404C>T (p.Arg802Ter) rs63751466
NM_000535.5(PMS2):c.251C>G (p.Thr84Ser) rs864622274
NM_000535.5(PMS2):c.2T>C (p.Met1Thr) rs587780059
NM_000535.5(PMS2):c.355G>T (p.Asp119Tyr) rs587781913
NM_000535.5(PMS2):c.384G>A (p.Ser128=) rs371342884
NM_000535.5(PMS2):c.466A>G (p.Thr156Ala) rs786204206
NM_000535.5(PMS2):c.695G>A (p.Gly232Glu) rs201811667
NM_000535.5(PMS2):c.697C>G (p.Gln233Glu) rs587779343
NM_000535.5(PMS2):c.861_864delACAG (p.Arg287Serfs) rs267608154
NM_000535.5(PMS2):c.862_863delCA (p.Gln288Valfs) rs63750246
NM_000535.5(PMS2):c.881G>A (p.Arg294Gln) rs373239341
NM_000535.5(PMS2):c.917T>C (p.Val306Ala) rs786201878
NM_000535.5(PMS2):c.983A>G (p.Asp328Gly) rs587782852
NM_000535.6(PMS2):c.-101A>G rs587779325
NM_000535.6(PMS2):c.-46T>A rs765248325
NM_000535.6(PMS2):c.123_131delGTTAGTAGA (p.Leu42_Glu44del) rs863224676
NM_000535.6(PMS2):c.1344A>G (p.Gly448=) rs759192470
NM_000535.6(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.6(PMS2):c.1408C>T (p.Pro470Ser) rs1805321
NM_000535.6(PMS2):c.1454C>A (p.Thr485Lys) rs1805323
NM_000535.6(PMS2):c.1488C>T (p.His496=) rs1805320
NM_000535.6(PMS2):c.1490G>A (p.Gly497Asp) rs199739859
NM_000535.6(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
NM_000535.6(PMS2):c.1567T>A (p.Ser523Thr) rs63751132
NM_000535.6(PMS2):c.164-108G>C rs12538294
NM_000535.6(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.6(PMS2):c.1717A>T (p.Thr573Ser) rs63751211
NM_000535.6(PMS2):c.1732C>T (p.Arg578Cys) rs63750534
NM_000535.6(PMS2):c.1760G>A (p.Ser587Asn) rs762100304
NM_000535.6(PMS2):c.1789A>T (p.Thr597Ser) rs1805318
NM_000535.6(PMS2):c.1798A>G (p.Met600Val) rs1304634005
NM_000535.6(PMS2):c.1A>G (p.Met1Val) rs587779333
NM_000535.6(PMS2):c.2006+6G>A rs111905775
NM_000535.6(PMS2):c.2007-4G>A rs1805326
NM_000535.6(PMS2):c.2007-7C>T rs55954143
NM_000535.6(PMS2):c.2062A>G (p.Ile688Val) rs1060503144
NM_000535.6(PMS2):c.2089A>G (p.Ile697Val) rs1554295859
NM_000535.6(PMS2):c.2108C>T (p.Thr703Met) rs370196722
NM_000535.6(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.6(PMS2):c.2156A>G (p.Gln719Arg) rs587782559
NM_000535.6(PMS2):c.215G>A (p.Gly72Glu) rs730881915
NM_000535.6(PMS2):c.2175-11G>T rs538914402
NM_000535.6(PMS2):c.2187C>G (p.Leu729=) rs373630535
NM_000535.6(PMS2):c.2212G>T (p.Val738Phe) rs758225108
NM_000535.6(PMS2):c.2243_2246delAGAA (p.Lys748Metfs) rs267608173
NM_000535.6(PMS2):c.2253T>C (p.Phe751=) rs1805325
NM_000535.6(PMS2):c.2276-10A>G rs573900018
NM_000535.6(PMS2):c.2276-2A>C rs1554294019
NM_000535.6(PMS2):c.229G>A (p.Glu77Lys) rs751235177
NM_000535.6(PMS2):c.23+10G>C rs192027828
NM_000535.6(PMS2):c.23+6C>T rs779104357
NM_000535.6(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.6(PMS2):c.2340C>T (p.Pro780=) rs142230276
NM_000535.6(PMS2):c.2347G>A (p.Val783Ile) rs553286217
NM_000535.6(PMS2):c.2356C>A (p.Leu786Met) rs576055272
NM_000535.6(PMS2):c.2380C>T (p.Pro794Ser) rs773393960
NM_000535.6(PMS2):c.2389A>T (p.Met797Leu) rs1433888137
NM_000535.6(PMS2):c.2392T>C (p.Cys798Arg) rs1554293839
NM_000535.6(PMS2):c.240C>A (p.Phe80Leu) rs143162541
NM_000535.6(PMS2):c.241G>A (p.Glu81Lys) rs730881919
NM_000535.6(PMS2):c.241G>T (p.Glu81Ter) rs730881919
NM_000535.6(PMS2):c.2464C>G (p.Leu822Val) rs1554292873
NM_000535.6(PMS2):c.2471C>A (p.Thr824Lys) rs1354323014
NM_000535.6(PMS2):c.251-2A>T rs587779340
NM_000535.6(PMS2):c.2519C>T (p.Pro840Leu) rs1554292787
NM_000535.6(PMS2):c.255G>A (p.Leu85=) rs200491279
NM_000535.6(PMS2):c.2570G>C (p.Gly857Ala) rs1802683
NM_000535.6(PMS2):c.25A>G (p.Thr9Ala) rs786202383
NM_000535.6(PMS2):c.269_270dup (p.Lys91Leufs) rs1554304745
NM_000535.6(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.6(PMS2):c.353+6A>G rs376449640
NM_000535.6(PMS2):c.353+9A>C rs139990791
NM_000535.6(PMS2):c.354-7C>T rs758471869
NM_000535.6(PMS2):c.364A>C (p.Ile122Leu) rs761748894
NM_000535.6(PMS2):c.378C>G (p.His126Gln) rs768488890
NM_000535.6(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.6(PMS2):c.400C>T (p.Arg134Ter) rs63750871
NM_000535.6(PMS2):c.477G>A (p.Val159=) rs147701251
NM_000535.6(PMS2):c.572A>G (p.Tyr191Cys) rs375289386
NM_000535.6(PMS2):c.595C>T (p.Arg199Cys) rs372297364
NM_000535.6(PMS2):c.598G>A (p.Val200Ile) rs587778620
NM_000535.6(PMS2):c.614A>C (p.Gln205Pro) rs587779342
NM_000535.6(PMS2):c.682G>A (p.Gly228Ser) rs376258383
NM_000535.6(PMS2):c.705+13G>A rs776790763
NM_000535.6(PMS2):c.706-4dup rs60794673
NM_000535.6(PMS2):c.709C>T (p.Gln237Ter) rs1458321358
NM_000535.6(PMS2):c.714C>A (p.Ser238Arg) rs151251082
NM_000535.6(PMS2):c.738C>G (p.Pro246=) rs202094399
NM_000535.6(PMS2):c.803+23A>T rs370719706
NM_000535.6(PMS2):c.804-12A>G rs1221537446
NM_000535.6(PMS2):c.857A>G (p.Asp286Gly) rs116788608
NM_000535.6(PMS2):c.877A>G (p.Asn293Asp) rs530993704
NM_000535.6(PMS2):c.903+20_903+21delGT rs746861817
NM_000535.6(PMS2):c.943C>T (p.Arg315Ter) rs200640585
NM_000535.6(PMS2):c.944G>A (p.Arg315Gln) rs116314131
NM_000535.6(PMS2):c.962T>C (p.Val321Ala) rs186448384
NM_000535.7(PMS2):c.106A>C (p.Ser36Arg) rs587781918
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462
NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg) rs141084758
NM_000535.7(PMS2):c.139C>G (p.Leu47Val) rs766203500
NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu) rs587782602
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.163+4A>G rs864622749
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln) rs63750668
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr) rs63751023
NM_000535.7(PMS2):c.178G>A (p.Asp60Asn) rs587782176
NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg) rs267608167
NM_000535.7(PMS2):c.197T>C (p.Ile66Thr) rs769554577
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522
NM_000535.7(PMS2):c.386C>T (p.Ala129Val) rs752284380
NM_000535.7(PMS2):c.412G>C (p.Asp138His) rs863224678
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu) rs587780060
NM_000535.7(PMS2):c.538-2A>G rs758304323
NM_000535.7(PMS2):c.58C>T (p.Arg20Trp) rs573374779
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser) rs777903002
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln) rs587781934
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.710A>T (p.Gln237Leu) rs587780061
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser) rs587782633
NM_000535.7(PMS2):c.787C>G (p.Leu263Val) rs587779345
NM_000535.7(PMS2):c.789G>A (p.Leu263=) rs755394319
NM_000535.7(PMS2):c.823C>G (p.Gln275Glu) rs587780062
NM_000535.7(PMS2):c.868T>G (p.Phe290Val) rs587782833
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg) rs56203955
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_000535.7(PMS2):c.936G>A (p.Met312Ile) rs139194813
NM_000535.7(PMS2):c.964G>A (p.Val322Ile) rs587782208

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