List of variants in gene PMS2 reported as likely pathogenic for 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: 7

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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.614A>C (p.Gln205Pro)	rs587779342	0.00001
NM_000535.7(PMS2):c.1144+250_2175-1948del
NM_000535.7(PMS2):c.134A>C (p.Asn45Thr)	rs1554306353
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn)	rs121434629
NM_000535.7(PMS2):c.451C>G (p.Arg151Gly)	rs758561884
NM_000535.7(PMS2):c.683del (p.Gly228fs)	rs2128799493

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