ClinVar Miner

List of variants in gene PMS2 reported as pathogenic for colorectal carcinoma

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.1145-1_2006+2del rs2128719778
NM_000535.7(PMS2):c.1181del (p.Lys394fs) rs1554298067
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter) rs587778618
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs) rs1057515572
NM_000535.7(PMS2):c.2156del (p.Gln719fs) rs786201062
NM_000535.7(PMS2):c.2445+1G>A rs876661113
NM_000535.7(PMS2):c.2445+1G>T rs876661113
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs) rs587781626
NM_000535.7(PMS2):c.2506del (p.Glu836fs) rs2128658092
NM_000535.7(PMS2):c.368del (p.Ser123fs) rs2128819251
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150

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