ClinVar Miner

List of variants in gene PMS2 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_000535.7(PMS2):c.251-20T>G rs149343081 0.00086
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.953A>G (p.Tyr318Cys) rs139438201 0.00022
NM_000535.7(PMS2):c.-7T>C rs199660792 0.00017
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853 0.00015
NM_000535.7(PMS2):c.240C>T (p.Phe80=) rs143162541 0.00013
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279 0.00013
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343 0.00010
NM_000535.7(PMS2):c.993C>T (p.Cys331=) rs186577215 0.00009
NM_000535.7(PMS2):c.2127C>T (p.Phe709=) rs199943748 0.00008
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884 0.00007
NM_000535.7(PMS2):c.353+6A>G rs376449640 0.00006
NM_000535.7(PMS2):c.1936A>C (p.Arg646=) rs369582237 0.00004
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272 0.00004
NM_000535.7(PMS2):c.2358G>C (p.Leu786=) rs535056715 0.00004
NM_000535.7(PMS2):c.765C>T (p.Tyr255=) rs573125799 0.00004
NM_000535.7(PMS2):c.831G>A (p.Thr277=) rs116481522 0.00004
NM_000535.7(PMS2):c.1041G>A (p.Glu347=) rs150515238 0.00003
NM_000535.7(PMS2):c.2517C>T (p.His839=) rs747600189 0.00003
NM_000535.7(PMS2):c.751G>A (p.Val251Met) rs142434011 0.00003
NM_000535.7(PMS2):c.903+4T>A rs753803330 0.00003
NM_000535.7(PMS2):c.23+7G>C rs878854047 0.00002
NM_000535.7(PMS2):c.803+19A>G rs761928990 0.00002
NM_000535.7(PMS2):c.1167A>G (p.Ala389=) rs748920792 0.00001
NM_000535.7(PMS2):c.251-9C>G rs1064793639 0.00001
NM_000535.7(PMS2):c.630A>G (p.Lys210=) rs765847615 0.00001
NM_000535.7(PMS2):c.1185C>T (p.Pro395=) rs1562636721
NM_000535.7(PMS2):c.1209C>T (p.Ser403=) rs147399413
NM_000535.7(PMS2):c.2121T>C (p.Tyr707=) rs1562615123
NM_000535.7(PMS2):c.23+32dup
NM_000535.7(PMS2):c.633A>G (p.Arg211=)
NM_000535.7(PMS2):c.988+8C>T
NM_000535.7(PMS2):c.989-8dup rs1333503820

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