ClinVar Miner

List of variants in gene PMS2 studied for mismatch repair cancer syndrome 1

Included ClinVar conditions (9):
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Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522 0.00192
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766 0.00142
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) rs138387687 0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649 0.00013
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300 0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00011
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp) rs530993704 0.00008
NM_000535.7(PMS2):c.353+6A>G rs376449640 0.00006
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537 0.00004
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646 0.00003
NM_000535.7(PMS2):c.675A>C (p.Glu225Asp) rs876661233 0.00003
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338 0.00002
NM_000535.7(PMS2):c.2560G>A (p.Ala854Thr) rs574371474 0.00002
NM_000535.7(PMS2):c.328G>T (p.Ala110Ser) rs767775907 0.00002
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser) rs587782633 0.00002
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys) rs376142390 0.00001
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter) rs63751422 0.00001
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg) rs760629688 0.00001
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) rs63751466 0.00001
NM_000535.7(PMS2):c.251-2A>T rs587779340 0.00001
NM_000535.7(PMS2):c.2567T>G (p.Leu856Arg) rs587782342 0.00001
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871 0.00001
NM_000535.7(PMS2):c.494C>T (p.Thr165Ile) rs587781541 0.00001
NM_000535.7(PMS2):c.506G>A (p.Arg169His) rs730881917 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_000535.6:c.(988+1_989-1)_(1144+1_1145-1)del
NM_000535.7(PMS2):c.1012C>G (p.Pro338Ala) rs876660508
NM_000535.7(PMS2):c.1145-31_1145-13del rs751973268
NM_000535.7(PMS2):c.1164del (p.His388fs) rs1554298082
NM_000535.7(PMS2):c.1306dup (p.Ser436fs) rs63750106
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter) rs587780724
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn) rs63750686
NM_000535.7(PMS2):c.164-4C>G rs876658444
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser) rs773393960
NM_000535.7(PMS2):c.24-2A>C rs1583419860
NM_000535.7(PMS2):c.2445+6T>C rs1170182390
NM_000535.7(PMS2):c.251-10T>A rs1554304817
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu) rs587780060
NM_000535.7(PMS2):c.662C>T (p.Pro221Leu) rs878854056
NM_000535.7(PMS2):c.672G>C (p.Lys224Asn) rs748141595
NM_000535.7(PMS2):c.710A>T (p.Gln237Leu) rs587780061
NM_000535.7(PMS2):c.715C>T (p.Leu239Phe) rs1554301543
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.75G>T (p.Gln25His) rs1554306525
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter) rs587780062
NM_000535.7(PMS2):c.861_864del (p.Arg287fs) rs267608154
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter) rs141577476
NM_000535.7(PMS2):c.949C>A (p.Gln317Lys) rs143277125
NM_000535.7(PMS2):c.964G>T (p.Val322Phe) rs587782208

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