ClinVar Miner

List of variants in gene PMS2 reported as uncertain significance for Lynch syndrome 4; Mismatch repair cancer syndrome 4

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met) rs370196722 0.00016
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131 0.00006
NM_000535.7(PMS2):c.1576G>T (p.Asp526Tyr) rs63750686 0.00003
NM_000535.7(PMS2):c.113C>T (p.Ala38Val) rs148270248 0.00002
NM_000535.7(PMS2):c.2174+6T>C rs587780050 0.00002
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr) rs587782671 0.00002
NM_000535.7(PMS2):c.2422G>A (p.Ala808Thr) rs1306035279 0.00001
NM_000535.7(PMS2):c.386C>T (p.Ala129Val) rs752284380 0.00001
NM_000535.7(PMS2):c.502G>A (p.Val168Met) rs762645507 0.00001
NM_000535.7(PMS2):c.653G>A (p.Gly218Asp) rs368043334 0.00001
NM_000535.7(PMS2):c.8G>A (p.Arg3Gln) rs375507981 0.00001
NM_000535.7(PMS2):c.904G>T (p.Val302Phe) rs755960629 0.00001
NM_000535.7(PMS2):c.962T>C (p.Val321Ala) rs186448384 0.00001
NM_000535.7(PMS2):c.1165G>A (p.Ala389Thr) rs1562637025
NM_000535.7(PMS2):c.1234A>G (p.Lys412Glu) rs587778616
NM_000535.7(PMS2):c.1438G>C (p.Gly480Arg) rs146848345
NM_000535.7(PMS2):c.1686T>A (p.Phe562Leu) rs764749700
NM_000535.7(PMS2):c.1714_1717delinsACAT (p.Ala572_Thr573delinsThrSer) rs1060503126
NM_000535.7(PMS2):c.1898A>G (p.His633Arg) rs63750024
NM_000535.7(PMS2):c.2008A>G (p.Lys670Glu) rs1554295980
NM_000535.7(PMS2):c.2143C>T (p.His715Tyr) rs747494931
NM_000535.7(PMS2):c.2587T>G (p.Ter863Gly) rs1060503124
NM_000535.7(PMS2):c.706-3delinsTA rs1436961952
NM_000535.7(PMS2):c.929A>G (p.Tyr310Cys) rs372172981

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