List of variants in gene PMS2 reported as likely pathogenic by Genetics and Molecular Pathology, SA Pathology

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)	rs587779338	0.00002
NM_000535.7(PMS2):c.1639dup (p.Ser547fs)	rs863224498
NM_000535.7(PMS2):c.903+1G>C	rs1554300689

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