ClinVar Miner

List of variants in gene PMS2 reported as likely pathogenic by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 84
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721 0.00004
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338 0.00002
NM_000535.7(PMS2):c.1144+1G>A rs373885654 0.00001
NM_000535.7(PMS2):c.164-1G>A rs763308607 0.00001
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915 0.00001
NM_000535.7(PMS2):c.23+1G>T rs587782074 0.00001
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077 0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00001
NM_000535.7(PMS2):c.706-2A>G rs745487791 0.00001
NM_000535.5:c.1274_1275insALU
NM_000535.5:c.804-64_804-63insSVA
NM_000535.7(PMS2):c.1144+1G>C rs373885654
NM_000535.7(PMS2):c.1144+1del rs2128746842
NM_000535.7(PMS2):c.1145-2A>G rs1325835006
NM_000535.7(PMS2):c.125TAG[1] (p.Val43del) rs1064794820
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.163+2T>A
NM_000535.7(PMS2):c.163+2T>C rs587779329
NM_000535.7(PMS2):c.163+2dup
NM_000535.7(PMS2):c.19_23+26delinsCC
NM_000535.7(PMS2):c.2006+1G>A rs1554297040
NM_000535.7(PMS2):c.2006_2006+4del rs771928911
NM_000535.7(PMS2):c.2007-1G>A rs267608170
NM_000535.7(PMS2):c.2007-1G>C
NM_000535.7(PMS2):c.2007-4_2007-2delinsACG
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.7(PMS2):c.209A>T (p.Asp70Val)
NM_000535.7(PMS2):c.2101C>T (p.His701Tyr) rs763866879
NM_000535.7(PMS2):c.2102A>G (p.His701Arg) rs1583298873
NM_000535.7(PMS2):c.2174+1G>T
NM_000535.7(PMS2):c.2174+2del
NM_000535.7(PMS2):c.2175-1G>A
NM_000535.7(PMS2):c.2175-2A>G
NM_000535.7(PMS2):c.220G>A (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.2275+1G>C rs1554294393
NM_000535.7(PMS2):c.2275+2T>C rs1562604682
NM_000535.7(PMS2):c.23+1G>C rs587782074
NM_000535.7(PMS2):c.23+2T>A
NM_000535.7(PMS2):c.24-2A>G rs1583419860
NM_000535.7(PMS2):c.2438_2442del (p.Arg813fs)
NM_000535.7(PMS2):c.2445+1G>A rs876661113
NM_000535.7(PMS2):c.2446-1G>T rs774583397
NM_000535.7(PMS2):c.2446-2A>G rs886039709
NM_000535.7(PMS2):c.250+1G>C
NM_000535.7(PMS2):c.250+2T>G
NM_000535.7(PMS2):c.251-11CT[2]
NM_000535.7(PMS2):c.2531C>A (p.Pro844His) rs587782787
NM_000535.7(PMS2):c.2534A>G (p.His845Arg) rs1554292741
NM_000535.7(PMS2):c.2534A>T (p.His845Leu) rs1554292741
NM_000535.7(PMS2):c.2555del (p.His852fs)
NM_000535.7(PMS2):c.2556_2557del (p.Ile853fs)
NM_000535.7(PMS2):c.353+2T>C rs111466480
NM_000535.7(PMS2):c.537+1G>A rs863224450
NM_000535.7(PMS2):c.538-1G>A rs988423880
NM_000535.7(PMS2):c.705+1G>C rs267608147
NM_000535.7(PMS2):c.705+1G>T rs267608147
NM_000535.7(PMS2):c.705+1del
NM_000535.7(PMS2):c.705+2T>C rs1784783734
NM_000535.7(PMS2):c.706-1G>A rs1202370194
NM_000535.7(PMS2):c.706-1G>C
NM_000535.7(PMS2):c.706-1G>T
NM_000535.7(PMS2):c.706-2A>C rs745487791
NM_000535.7(PMS2):c.798_803+15delinsGTAGTTCT
NM_000535.7(PMS2):c.803+1G>T rs1562669585
NM_000535.7(PMS2):c.803+5G>A rs939641251
NM_000535.7(PMS2):c.804-10T>G rs267608151
NM_000535.7(PMS2):c.804-1G>A rs1562664845
NM_000535.7(PMS2):c.804-1G>C
NM_000535.7(PMS2):c.811G>C (p.Gly271Arg)
NM_000535.7(PMS2):c.812G>A (p.Gly271Asp) rs1583364867
NM_000535.7(PMS2):c.815del (p.Phe272fs)
NM_000535.7(PMS2):c.899_903+5delinsTAACAC
NM_000535.7(PMS2):c.902dup (p.Val302fs) rs1784291698
NM_000535.7(PMS2):c.903+1G>A rs1554300689
NM_000535.7(PMS2):c.903+1G>T rs1554300689
NM_000535.7(PMS2):c.903+2T>A
NM_000535.7(PMS2):c.903+2T>C rs878854059
NM_000535.7(PMS2):c.904-1G>T
NM_000535.7(PMS2):c.904-2A>C rs587781339
NM_000535.7(PMS2):c.988+1G>T rs757110564
NM_000535.7(PMS2):c.988+1del rs876660075
NM_000535.7(PMS2):c.988+2T>C

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.