List of variants in gene PMS2 reported as pathogenic for Lynch syndrome 1

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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.400C>T (p.Arg134Ter)	rs63750871	0.00001
NM_000535.5:c.(1144+1_1145-1)_(2174+1_2715-1)dup
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)	rs63750250
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)	rs201451115
NM_000535.7(PMS2):c.2276-113_2445+1596del
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)	rs730881919
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter)	rs141577476

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