List of variants in gene PMS2 reported as pathogenic for mismatch repair cancer 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)
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Total variants: 17

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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.1A>G (p.Met1Val)	rs587779333	0.00004
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter)	rs63751422	0.00001
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)	rs63751466	0.00001
NM_000535.7(PMS2):c.251-2A>T	rs587779340	0.00001
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)	rs63750871	0.00001
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)	rs200640585	0.00001
NM_000535.6:c.(988+1_989-1)_(1144+1_1145-1)del
NM_000535.7(PMS2):c.1164del (p.His388fs)	rs1554298082
NM_000535.7(PMS2):c.1306dup (p.Ser436fs)	rs63750106
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)	rs63750250
NM_000535.7(PMS2):c.24-2A>C	rs1583419860
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)	rs587780059
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)	rs267608150
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter)	rs587780062
NM_000535.7(PMS2):c.861_864del (p.Arg287fs)	rs267608154
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter)	rs141577476

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