ClinVar Miner

List of variants in gene PMS2 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683 0.30966
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00348
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522 0.00192
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766 0.00142
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276 0.00117
NM_000535.7(PMS2):c.353+9A>C rs139990791 0.00099
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585 0.00088
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687 0.00088
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00077
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp) rs115670442 0.00048
NM_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814 0.00039
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly) rs756883400 0.00038
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00018
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met) rs370196722 0.00016
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp) rs375968016 0.00016
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279 0.00013
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824 0.00013
NM_000535.7(PMS2):c.1320A>G (p.Pro440=) rs138697590 0.00012
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343 0.00010
NM_000535.7(PMS2):c.2127C>T (p.Phe709=) rs199943748 0.00008
NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln) rs587781909 0.00007
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884 0.00007
NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly) rs143235330 0.00006
NM_000535.7(PMS2):c.353+6A>G rs376449640 0.00006
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251 0.00006
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg) rs536111818 0.00004
NM_000535.7(PMS2):c.320G>A (p.Arg107Gln) rs63751284 0.00004
NM_000535.7(PMS2):c.1041G>A (p.Glu347=) rs150515238 0.00003
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp) rs114185660 0.00003
NM_000535.7(PMS2):c.1170G>A (p.Ala390=) rs755578413 0.00002
NM_000535.7(PMS2):c.1480T>G (p.Ser494Ala) rs587782500 0.00002
NM_000535.7(PMS2):c.2217G>A (p.Leu739=) rs752718686 0.00002
NM_000535.7(PMS2):c.378C>T (p.His126=) rs768488890 0.00002
NM_000535.7(PMS2):c.705+3A>G rs764334813 0.00002
NM_000535.7(PMS2):c.1058C>T (p.Ala353Val) rs543676323 0.00001
NM_000535.7(PMS2):c.1253C>T (p.Ser418Phe) rs587782640 0.00001
NM_000535.7(PMS2):c.1630G>A (p.Asp544Asn) rs876660139 0.00001
NM_000535.7(PMS2):c.1705A>G (p.Thr569Ala) rs762151417 0.00001
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn) rs762100304 0.00001
NM_000535.7(PMS2):c.1765G>C (p.Asp589His) rs749727182 0.00001
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg) rs760629688 0.00001
NM_000535.7(PMS2):c.2109G>A (p.Thr703=) rs775355718 0.00001
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter) rs1064794083 0.00001
NM_000535.7(PMS2):c.647G>T (p.Cys216Phe) rs730881908 0.00001
NM_000535.7(PMS2):c.711A>G (p.Gln237=) rs368608818 0.00001
NM_000535.7(PMS2):c.755G>A (p.Cys252Tyr) rs775445157 0.00001
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly) rs587782852 0.00001
NM_000535.7(PMS2):c.1004A>T (p.Asn335Ile) rs200513014
NM_000535.7(PMS2):c.1224T>C (p.Thr408=) rs1554298007
NM_000535.7(PMS2):c.1245G>A (p.Val415=) rs370701800
NM_000535.7(PMS2):c.1332G>A (p.Arg444=) rs1554297874
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln) rs63750668
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1760G>C (p.Ser587Thr)
NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg) rs764252217
NM_000535.7(PMS2):c.1888A>G (p.Lys630Glu) rs2128721764
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.218G>A (p.Cys73Tyr) rs1326865470
NM_000535.7(PMS2):c.23+3G>T rs1408475000
NM_000535.7(PMS2):c.2310G>T (p.Leu770Phe) rs1583281360
NM_000535.7(PMS2):c.2437C>G (p.Arg813Gly) rs375968016
NM_000535.7(PMS2):c.2506G>C (p.Glu836Gln)
NM_000535.7(PMS2):c.251-11CT[2]
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.348A>G (p.Ala116=) rs763057312
NM_000535.7(PMS2):c.447C>T (p.Tyr149=) rs1224505288
NM_000535.7(PMS2):c.475G>T (p.Val159Leu) rs142416537
NM_000535.7(PMS2):c.531T>G (p.Ile177Met) rs863224679
NM_000535.7(PMS2):c.684C>T (p.Gly228=) rs371876208
NM_000535.7(PMS2):c.789G>A (p.Leu263=) rs755394319
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000535.7(PMS2):c.950A>G (p.Gln317Arg) rs537024768

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