ClinVar Miner

List of variants in gene PMS2 reported as likely benign by Quest Diagnostics Nichols Institute San Juan Capistrano

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Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687 0.00088
NM_000535.7(PMS2):c.1199A>C (p.Gln400Pro) rs148069478 0.00045
NM_000535.7(PMS2):c.936G>A (p.Met312Ile) rs139194813 0.00041
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132 0.00021
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853 0.00015
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649 0.00013
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.1320A>G (p.Pro440=) rs138697590 0.00012
NM_000535.7(PMS2):c.1248C>A (p.Ser416=) rs780709321 0.00011
NM_000535.7(PMS2):c.1533G>A (p.Thr511=) rs542520309 0.00011
NM_000535.7(PMS2):c.2276-10A>G rs573900018 0.00010
NM_000535.7(PMS2):c.1980C>T (p.Ala660=) rs368928783 0.00009
NM_000535.7(PMS2):c.1656T>C (p.His552=) rs113726095 0.00008
NM_000535.7(PMS2):c.738C>G (p.Pro246=) rs202094399 0.00005
NM_000535.7(PMS2):c.166C>G (p.Leu56Val) rs371011390 0.00004
NM_000535.7(PMS2):c.1806C>G (p.Ala602=) rs376046767 0.00004
NM_000535.7(PMS2):c.1936A>C (p.Arg646=) rs369582237 0.00004
NM_000535.7(PMS2):c.2334C>T (p.Phe778=) rs768674294 0.00004
NM_000535.7(PMS2):c.681C>T (p.Ile227=) rs188813057 0.00003
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met) rs567102013 0.00002
NM_000535.7(PMS2):c.1170G>A (p.Ala390=) rs755578413 0.00002
NM_000535.7(PMS2):c.1680T>C (p.Cys560=) rs752143026 0.00002
NM_000535.7(PMS2):c.23+7G>C rs878854047 0.00002
NM_000535.7(PMS2):c.702G>A (p.Lys234=) rs876660388 0.00002
NM_000535.7(PMS2):c.988+10A>G rs372554253 0.00002
NM_000535.7(PMS2):c.1134G>T (p.Leu378=) rs754576828 0.00001
NM_000535.7(PMS2):c.1167A>G (p.Ala389=) rs748920792 0.00001
NM_000535.7(PMS2):c.1305C>T (p.His435=) rs763954903 0.00001
NM_000535.7(PMS2):c.1463C>T (p.Ala488Val) rs587779328 0.00001
NM_000535.7(PMS2):c.1587G>A (p.Ser529=) rs786201709 0.00001
NM_000535.7(PMS2):c.1674C>T (p.Thr558=) rs876658134 0.00001
NM_000535.7(PMS2):c.1728A>G (p.Thr576=) rs754542046 0.00001
NM_000535.7(PMS2):c.2109G>A (p.Thr703=) rs775355718 0.00001
NM_000535.7(PMS2):c.2112C>T (p.Asp704=) rs764735061 0.00001
NM_000535.7(PMS2):c.2148C>T (p.Thr716=) rs748404138 0.00001
NM_000535.7(PMS2):c.282G>A (p.Glu94=) rs576942328 0.00001
NM_000535.7(PMS2):c.33T>A (p.Pro11=) rs780178572 0.00001
NM_000535.7(PMS2):c.630A>G (p.Lys210=) rs765847615 0.00001
NM_000535.7(PMS2):c.711A>G (p.Gln237=) rs368608818 0.00001
NM_000535.7(PMS2):c.750C>T (p.Ser250=) rs200439295 0.00001
NM_000535.7(PMS2):c.795T>C (p.Asn265=) rs766667186 0.00001
NM_000535.7(PMS2):c.105A>G (p.Leu35=) rs947238940
NM_000535.7(PMS2):c.1203T>C (p.Asp401=) rs1057522327
NM_000535.7(PMS2):c.1437C>T (p.His479=) rs63750685
NM_000535.7(PMS2):c.1569C>T (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.2160G>A (p.Gly720=) rs546441038
NM_000535.7(PMS2):c.23+7G>T rs878854047
NM_000535.7(PMS2):c.2433C>T (p.Ala811=) rs1583279559
NM_000535.7(PMS2):c.2538A>G (p.Gly846=) rs863224368
NM_000535.7(PMS2):c.2559C>T (p.Ile853=) rs371673459
NM_000535.7(PMS2):c.321G>A (p.Arg107=) rs756420858
NM_000535.7(PMS2):c.360C>T (p.Val120=) rs767313783
NM_000535.7(PMS2):c.633A>G (p.Arg211=)
NM_000535.7(PMS2):c.885G>T (p.Arg295=) rs786201615
NM_000535.7(PMS2):c.915C>G (p.Leu305=) rs767392742

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