List of variants in gene PMS2 reported as not provided for DNA repair disease

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.1243G>A (p.Val415Met)	rs138387687	0.00019
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)	rs587780046	0.00017
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)	rs116788608	0.00011
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr)	rs63751023	0.00009
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met)	rs371673459	0.00007
NM_000535.7(PMS2):c.353+6A>G	rs376449640	0.00006
NM_000535.7(PMS2):c.883C>T (p.Arg295Trp)	rs182246929	0.00003
NM_000535.7(PMS2):c.2567T>G (p.Leu856Arg)	rs587782342	0.00001
NM_000535.7(PMS2):c.608C>G (p.Thr203Ser)	rs779946576	0.00001
GRCh37/hg19 7p22.1(chr7:6026390-6027251)x3
NM_000535.7(PMS2):c.1012C>G (p.Pro338Ala)	rs876660508
NM_000535.7(PMS2):c.1949C>T (p.Ala650Val)	rs886062399
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)	rs63750695
NM_000535.7(PMS2):c.251-10T>A	rs1554304817
NM_000535.7(PMS2):c.662C>T (p.Pro221Leu)	rs878854056

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