ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 16
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NM_000535.7(PMS2):c.1144+1G>C rs373885654
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.2095G>C (p.Asp699His) rs587781317
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter) rs730881919
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.709C>T (p.Gln237Ter) rs1458321358
NM_000535.7(PMS2):c.726del (p.Phe242fs) rs1583375132
NM_000535.7(PMS2):c.752_753TG[2] (p.Cys252_Glu253delinsTer) rs1064794905

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