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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	rs121434629	0.00018
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)	rs587778617	0.00001
NM_000535.7(PMS2):c.538-1G>C	rs988423880	0.00001
NM_000535.7(PMS2):c.1A>T (p.Met1Leu)	rs587779333
NM_000535.7(PMS2):c.2117del (p.Lys706fs)	rs587782704
NM_000535.7(PMS2):c.2175-1335_2445+4del
NM_000535.7(PMS2):c.2184del (p.Leu729fs)	rs1554294505
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)	rs587779335
NM_000535.7(PMS2):c.2445+1763_*2del
NM_000535.7(PMS2):c.2446-170_*3del	rs2128656455
NM_000535.7(PMS2):c.538-41_538-40insATTCCTATAATA	rs2128802890
NM_000535.7(PMS2):c.804-267_903+2del	rs2128774241
NM_000535.7(PMS2):c.904-199_988+2del	rs2128754923
NM_000535.7(PMS2):c.989-1_1144+2del	rs2128746824

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