ClinVar Miner

List of variants in gene PMS2 reported as benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319 0.82058
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_000535.7(PMS2):c.705+17A>G rs62456182 0.33782
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683 0.30966
NM_000535.7(PMS2):c.1621= (p.Lys541=) rs2228006 0.13518
NM_000535.7(PMS2):c.2007-4G>A rs1805326 0.12812
NM_000535.7(PMS2):c.2007-7C>T rs55954143 0.11826
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000 0.11353
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07451
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323 0.05742
NM_000535.7(PMS2):c.903+100T>G rs12534423 0.05684
NM_000535.7(PMS2):c.903+84C>T rs3815383 0.04877
NM_000535.7(PMS2):c.2006+6G>A rs111905775 0.04390
NM_000535.7(PMS2):c.288C>T (p.Ala96=) rs12532895 0.03944
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000535.7(PMS2):c.251-72A>G rs117831773 0.02449
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320 0.02307
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01574
NM_000535.7(PMS2):c.2275+25C>T rs184115126 0.01015
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=) rs6972869 0.00992
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 0.00333
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276 0.00117
NM_000535.7(PMS2):c.353+9A>C rs139990791 0.00100
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00094
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00083
NM_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814 0.00038
NM_000535.7(PMS2):c.988+11T>C rs139969671 0.00032
NM_000535.7(PMS2):c.1242C>T (p.Asp414=) rs142839559 0.00025
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343 0.00024
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853 0.00015
NM_000535.7(PMS2):c.1944T>C (p.Phe648=) rs144011908 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.2445G>A (p.Ser815=) rs753199796 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.2160G>A (p.Gly720=) rs546441038 0.00011
NM_000535.7(PMS2):c.1980C>T (p.Ala660=) rs368928783 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.477G>A (p.Val159=) rs147701251 0.00006
NM_000535.7(PMS2):c.1197G>A (p.Lys399=) rs757730609 0.00004
NM_000535.7(PMS2):c.12T>G (p.Ala4=) rs776136427 0.00004
NM_000535.7(PMS2):c.1806C>G (p.Ala602=) rs376046767 0.00004
NM_000535.7(PMS2):c.2049C>T (p.Asn683=) rs752950007 0.00004
NM_000535.7(PMS2):c.2358G>C (p.Leu786=) rs535056715 0.00004
NM_000535.7(PMS2):c.705+12C>T rs368486366 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.681C>T (p.Ile227=) rs188813057 0.00003
NM_000535.7(PMS2):c.-18G>C rs200624125 0.00002
NM_000535.7(PMS2):c.1145-17C>T rs587781110 0.00002
NM_000535.7(PMS2):c.1170G>A (p.Ala390=) rs755578413 0.00002
NM_000535.7(PMS2):c.1629C>T (p.Asp543=) rs111673299 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.1368T>C (p.Ser456=) rs587780723 0.00001
NM_000535.7(PMS2):c.1674C>T (p.Thr558=) rs876658134 0.00001
NM_000535.7(PMS2):c.2007-16C>T rs587781111 0.00001
NM_000535.7(PMS2):c.2445+11A>C rs1397297067 0.00001
NM_000535.7(PMS2):c.251-12A>C rs562762722 0.00001
NM_000535.7(PMS2):c.474C>T (p.Ser158=) rs767414243 0.00001
NM_000535.7(PMS2):c.630A>G (p.Lys210=) rs765847615 0.00001
NM_000535.7(PMS2):c.706-13T>C rs730881918 0.00001
NM_000535.7(PMS2):c.711A>G (p.Gln237=) rs368608818 0.00001
NM_000535.7(PMS2):c.804-15A>G rs1448706115 0.00001
NM_000535.7(PMS2):c.904-17C>A rs758503886 0.00001
NM_000535.7(PMS2):c.*3G>A rs776493195
NM_000535.7(PMS2):c.*92dup rs267608145
NM_000535.7(PMS2):c.-18G>A rs200624125
NM_000535.7(PMS2):c.-93G>T rs6976537
NM_000535.7(PMS2):c.1145-11C>T rs558565527
NM_000535.7(PMS2):c.1145-16G>T rs576825560
NM_000535.7(PMS2):c.1209C>T (p.Ser403=) rs147399413
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.17G>C (p.Ser6Thr) rs587781112
NM_000535.7(PMS2):c.2085C>T (p.Ile695=) rs757157176
NM_000535.7(PMS2):c.2174+1097_2174+1099delinsACC rs2128696482
NM_000535.7(PMS2):c.2275+12_2275+15del rs758812244
NM_000535.7(PMS2):c.2276-88G>T rs113594486
NM_000535.7(PMS2):c.2446-19C>T rs1390101876
NM_000535.7(PMS2):c.251-13C>T rs1554304821
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.681C>A (p.Ile227=) rs188813057
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.780C>A (p.Ser260=) rs1805319
NM_000535.7(PMS2):c.97C>T (p.Leu33=) rs878854061
NM_000535.7(PMS2):c.989-21_989-20del rs745927005

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