ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915 0.00001
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077 0.00001
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter) rs1458321358 0.00001
NM_000535.7(PMS2):c.1017_1018insG (p.Lys340fs)
NM_000535.7(PMS2):c.1144+1G>C rs373885654
NM_000535.7(PMS2):c.116del (p.Val39fs) rs1064794152
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.163+1G>A rs1064795705
NM_000535.7(PMS2):c.164-9_178delinsGATCC rs1583410952
NM_000535.7(PMS2):c.1778del (p.Lys593fs) rs766389591
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter) rs1554297125
NM_000535.7(PMS2):c.1924del (p.Glu642fs) rs2128721171
NM_000535.7(PMS2):c.1938del (p.Lys647fs) rs2128720948
NM_000535.7(PMS2):c.1970del (p.Asn657fs) rs1064794566
NM_000535.7(PMS2):c.1A>C (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val) rs869320619
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.7(PMS2):c.214_215insAAGTTTCA (p.Gly72fs) rs1785419483
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.2444_2445insTT (p.Val816fs) rs2128671557
NM_000535.7(PMS2):c.2446-2A>G rs886039709
NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter) rs786201039
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs) rs1554304745
NM_000535.7(PMS2):c.375C>A (p.Cys125Ter) rs1562690527
NM_000535.7(PMS2):c.452del (p.Arg151fs) rs745763201
NM_000535.7(PMS2):c.726del (p.Phe242fs) rs1583375132
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer) rs1064794905
NM_000535.7(PMS2):c.803+1G>A rs1562669585
NM_000535.7(PMS2):c.804-10T>G rs267608151
NM_000535.7(PMS2):c.903+1G>A rs1554300689

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