List of variants in gene PMS2 reported as likely pathogenic for female reproductive organ cancer

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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.2395C>T (p.Arg799Trp)	rs149202766	0.00142
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp)	rs375968016	0.00016
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)	rs587779337	0.00001
NM_000535.7(PMS2):c.962T>C (p.Val321Ala)	rs186448384	0.00001
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.832C>A (p.His278Asn)	rs1554300796

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